Archive for the ‘Genetic Testing’ Category

GeneDx Holdings Corp. WGS has made the biggest gains on the Russell 2000 Index in 2024 as the biotechnology company moves toward more comprehensive genetic testing.

The Maryland-based companys shares have soared 1,101% so far this year as of midday Thursday, according to Tradingview.

Goldman Sachs analyst Matthew Sykes attributes much of GeneDXs positive momentum to shifting its testing. The company went from panel-based tests, which look for variants in more than one gene, to exome/genome testing, which analyzes the bulk of a persons DNA to find genetic variations.

Also Read: GeneDx Stock Climbs After Better-Than-Expected Q1 Results, Raises FY24 Guidance

We remain optimistic about WGS's continued focus on converting its mix shift of panel-based tests to whole exome/genome-based tests, Sykes wrote in a note on Wednesday.

As of 1Q24, 30% of their tests were exome/genome-based, whereas this metric was 16% in 1Q23.

He said the transition has expanded the companys margins from 33% in the first quarter of 2023 to 61% in this years first quarter.

We see gross margins continuing to improve going forward, yet see more moderated growth in out years, reaching the mid-high 60% range exiting 2026, he wrote.

We see this mix shift evolution as the key driver of WGS's growth in the near term given their initial focus on rare disease/pediatrics.

Goldman Sachs maintains revenue estimates for GeneDx at $243 million for 2024, $269 million for 2025 and $306 million for 2026. It expects the company to post losses per share of $1.07 for this year and $0.21 for next year and earnings per share of $0.35 for 2026.

It has given GeneDx a Neutral rating and has increased its price target on the stock from $12.50 to $28.

Analysts expect GeneDx to post a $0.30 loss per share when it reports second-quarter earnings on July 30, up from a $0.33 loss per share registered for the first quarter, according to Benzinga Pro.

GeneDx has distanced itself from stocks held by runner-up small-cap companies Massachusetts-based Corbus Holdings Inc. CRBP and Root, Inc. ROOT.

Corbus has risen 834% since the beginning of 2024, while Root, an Ohio-based online car insurance company, has gained 670%.

Price Action: GeneDx has slipped 3.36% to $32.18 by Thursdays midday trading, while Corbus has fallen 5.26% to $55.86 and Root has risen 1.49% to $80.59.

Other leading small-cap stocks on Russell 2000

Below are the remaining companies that round out the top-10 list of top performers in the Russell 2000.

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GeneDx Leads Russell 2000 This Year As It Shifts To More Comprehensive Genetic Testing - Benzinga

TAMPA, Fla. Its a topic you dont hear discussed much: men developing breast cancer.

Breast cancer is far less common in men than it is in women. However, according to the American Cancer Society, about one in one thousand men will develop this form of cancer.

You walk through a door with a sign that says No Men Beyond This Point, so thats your first introduction to getting a mammogram as a man, said Ben Porch whos been getting mammograms since 2020. Most of the time, I was given a pink gown to wear.

Usually, his screenings came back clear.

That is until 2023.

Well, on this particular one, they said, Could you just wait a minute? We might want to get some more images. And I thought to myself, Well, that doesnt sound so good, explained Porch.

After getting a biopsy, the doctors found what they suspected: breast cancer.

Its not something you want to be told, but, like I said, given the history, I wasnt completely surprised by the diagnosis, said Porch

The reason why he wasnt surprised was because his sister had died from breast just years prior and his father had beaten breast cancer himself.

He thanks genetic testing for allowing him to know there was a possibility hed eventually develop breast cancer and he recommends everyone take a genetic test to know what illnesses theyre at risk of developing.

Its literally a simple test that comes with a small little test tube and you spit into it and cap, send it off and they send you back the results, explained Porch.

After doctors at Tampa General and USF removed the cancer cells, Ben was considered cancer-free on May 9, 2023.

He said the experience of battling breast cancer wasnt easy, but he had his family there every step of the way.

It was a traumatic experience at the time, said Porch to his wife. But, you know, looking back on it and having you there to support me through the whole thing was the way I survived.

Now, Porch is focused on staying strong and healthy. He swam when he was younger and decided to return to the sport.

It was really important after the surgery to get back to some exercise that would help exercise the chest area and really help with the stretching and building back the muscle tone again, said Porch.

As Porch mentioned, genetic testing is more accessible to the average person, allowing you to know - through science - what illnesses you may develop in your lifetime and knowing that will allow you can stay out in front of it.

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Florida man says genetic testing likely saved his life before receiving a breast cancer diagnosis - ABC Action News Tampa Bay

Undergoing germline testing is of particular importance for patients with prostate cancer, as one expert explained.

Germline testing is that genetic testing of the of the sequence of DNA that you inherit from your parents, so it's looking at whether you've inherited your risk for cancer, explained Dr. Kelly Stratton, associate professor of urologic oncology at the University of Oklahoma in Oklahoma City, during a conversation that was part of the CURE Speaking Out video series.

In prostate cancer, that's particularly important because it could allow us to give you treatments that can be targeted to alterations that you've inherited and may have been what predisposed you to develop prostate cancer.

Many patients with high-risk or metastatic (cancer that has spread to other parts of the body) prostate cancer are recommended to undergo germline testing, for example, Stratton said.

A lot of times urologist can be the point person for referring or conducting that testing, and that testing can also help us identify patients who may be candidates for other treatments, Stratton said. In particular, for patients who have metastatic, castration-resistant prostate cancer [cancer that grows when testosterone levels in the body are low], there are several drugs that are specifically indicated for patients who have [genetic] alterations.

However, adherence to germline testing is low. A study published in JAMA in 2023 found that, among nearly 1.4 million patients who received a diagnosis of cancer between 2013 and 2019 in California and Georgia, only 6.8% in total underwent germline testing, and only 1.1% of patients who received a diagnosis of prostate cancer were tested.

Historically, there have been a lot of a lot of barriers, both understanding the potential candidates for testing, understanding the test and how they're available, and also the potential cost to patients, Stratton said. As we continue to get more and more treatment options, I think those barriers have gone down, urologists are increasingly more comfortable referring or conducting the genetic testing, insurance companies are understanding the benefit of approving those tests and it's easier for us to communicate to patients the potential implications of the genetic test, and also the costs of the genetic tests. So, as we see more and more treatments, it becomes an easier conversation to have with patients.

For more news on cancer updates, research and education, dont forget tosubscribe to CUREs newsletters here.

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Why Germline Testing is Important for Patients with Prostate Cancer - Curetoday.com

Jane Kramer. Photo: Dina Litovsky

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In 2017, 23andMe began offering tests for the genetic risk of developing certain health conditions like celiac disease, Parkinsons, and late-onset Alzheimers. The Alzheimers test will tell you if you have the gene variant APOE4, which means you have an increased likelihood of developing the disease. One in four people carry a single copy of the gene, but 2 to 3 percent of the population have two copies one from each parent and have a much higher probability. As with all of 23andMes upcharged Health Predisposition Reports, the sell on it was self-empowerment: Once you know, you can plan, allowing you to take charge of your well-being.

Except most experts dont recommend that you test for APOE4 status. Theres no cure for Alzheimers disease and no surefire way to prevent it. Many people who find out they have two copies of APOE4 from 23andMe are left only with profound anxiety. Not taking the test in a clinical setting means that when the results come in, there is no doctor or counselor present to help process them or explain what can even be done with the information. Instead, theres the internet: In Facebook groups and Reddit forums, APOE4/4s, as they call themselves, try to help one another through their doom spirals. They parse scientific studies on the links between exercise and cognition and theorize about the protective benefits of fish-oil supplements and cooking with saffron.

In 2022, the actor Chris Hemsworth revealed in the National Geographic docuseries Limitless that he has two copies of APOE4, prompting a wave of interest in getting tested. Peter Attia, the longevity doctor who gave Hemsworth the news in the series, devoted a chapter of his 2023 book, Outlive: The Science & Art of Longevity, to the gene variant, proposing a series of lifestyle changes to manage your genetic risk up your fish consumption, cut out alcohol, lift weights, hit the dry sauna four times a week some of which are more speculative than solidly proved. Still, his recommendations are a mainstay of online-community discussions.

In May, Nature Medicine published a study that recommended reclassifying APOE4/4 status as not just a risk factor for developing Alzheimers but a clear cause news that sent many 4/4s spinning. Some plunge themselves into research, looking for methods to stave it off. Others compartmentalize (and philosophize) while trying to be present in their lives. Here, ten 4/4s stories.

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Jane Kramer, 58, Scarsdale

My dad died of Alzheimers. He was about 73 when he became forgetful. He ended up living till just about 87, so it was many, many years of decline that I was witness to. When my older sister was 64, my niece came to me saying theres something going on. I knew what was going on. Theres something called a MoCA test; its a classic test they give people to see where they are in their cognition. And the mini mental-state exam, I think it is MMSE. Its like, Draw a clock, make it be ten minutes after 11. Draw this shape. Here are three words, remember them. Now Im going to talk to you and divert your attention for 20 minutes, then come back. What are those three words? Things like that. I was with my sister when she took this test and she failed miserably. It was probably one of the saddest moments of my life.

When this all happened, that made me go, Uh-oh, I am screwed. These are two first-degree relatives now. When I got the genetic results, I 100 percent freaked out. I became mentally fatalistic, was drinking more. I have always been quite healthy in my life, and I thought, Oh, Im ruining things.

The kind of person I am, I decided, Im gonna find every clinical trial there is. I managed to get into the Weill Cornell Alzheimers Prevention Clinic and started getting blood work and cognitive testing every six months. I signed up for some clinical trials I knew I would never participate in, just to get tests because you cant get certain tests otherwise. I got free MRIs. I got free plasma-biomarker tests. I participated in the Womens Brain Initiative with Dr. Lisa Mosconi, whos a bigwig. Theres a new drug thats in an extended phase-three trial, so Im in touch with the head of that drug company. I have no shame. There was a press release and the guys email was on it, so Im like, Hey, hows it going? Im wondering if youre doing any prevention trials.

I did all these studies for years. Then I was going to get an amyloid PET scan and I stopped. I realized I didnt want to know if I had a positive amyloid PET. I was like, Youre just trying to hurt yourself by knowing too much.

My sister is 70 now and is about to go into hospice. Its been a fairly fast decline. She doesnt know who anyone is, speaks babble, and its really bad. As I get closer to the age of my sisters diagnosis, I get more stressed out. As you get older, there is normal forgetfulness sometimes, like when you dont get enough sleep. So I ask my nieces, What were the first signs you saw in my sister? I want to know what made them think it wasnt just forgetting. Its a learning experience every day: How do I filter whats normal from what isnt normal? I did have an MRI again recently, and I could compare it to my first one, in 2019 I always ask for the disc and everything so I can compare. My brain is still the normal volume; my hippocampus is still the right size. I remember seeing my sisters MRI when she was diagnosed, and her brain was like half the size of her head. So that makes me feel better.

If I think about it too much, I get scared. When I see my sister on FaceTime, I get really, really sad. I dont have kids, but Ive already given my nieces permission not to come visit me because its too upsetting. One question I have is, Do I have enough money to not have to be thrown in a home? Im married to a nurse practitioner, and shes a planner. She wants to know how much I wanna be taken care of. Like, How much intervention do you want? Thereve been fights about it. I want to be taken care of properly; I dont want to be left in my own shit or fall down and hurt myself. But could she maybe and Im okay with this not force me to eat if I dont know what eating is? That comforts me because I know that starving to death is not painful, right? If I lose the hunger mechanism, if I dont know what food is and its sitting in front of me and I dont know what to do with it, shes not gonna put it in my mouth. I think her knowledge will create a much more humane situation at end of life for me, if thats the case. I dont know if Im brave enough to go and do an assisted-death thing. Im chicken about that stuff.

Jake Petersen. Photo: Dina Litovsky

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Jake Petersen, 33, Los Angeles

I signed up for 23andMe because I was more interested in questions like Does cilantro taste bad to me? I didnt give the genetic risk much thought. Then I read the Peter Attia book. All of a sudden, I got extremely nervous. I felt like a train had hit me.

I went into full research mode. Nights, weekends, I had a Google Chrome window with 80 tabs on it, bookmarks out the wazoo. In this time, Ive learned how to read scientific studies, and Ill use ChatGPT to digest a lot of them when I cant understand. As someone in their 30s, Im not really finding any resources available I guess its in none of these studies interest to put someone in the study in their 30s because theyre not going to find out the results for, what, 40 years?

I consider myself extremely lucky and extremely pleased that I found this out. Alzheimers is something thats starting in my brain now. The plaque these buildups are happening in my 30s, right? I want to change these odds as much as possible. Im optimistic, but I hear this clock ticking in the back of my head.

Im not overweight. I do cardio. I do HIIT, I do Barrys Bootcamp. Im not a net risk factor. But I think for me, the first step was, Okay, Jake, you need to get a doctor thats going to not laugh at you when you bring this up and say, Youre 30, dont worry about it. Youre healthy, youre fine.

So I ended up joining Forward, a membership health clinic. They talk about medicine 3.0 and use software to track your health and vitals over time. From reading Peters book, I started to understand the litany of tests I wanted to get done. An APOE4 carrier does have challenges with cholesterol and processing lipids. We have a pretty high family history of cholesterol; everyones on a statin. So I did an advanced lipid panel: It shows your ApoB, your density of particles, how much small dense LDL you have. That ones the worst its more likely to cause issues in both cardiovascular disease and with Alzheimers because essentially Alzheimers is partially a lipid-transport disease. The panel showed that my LDL is a bit high, but looking at the ApoB and the small dense LDL, Im somewhat close to off the charts. Im probably going to have to go on a statin in the next couple of months.

I started doing a lot of research into different scientific studies. I have a note on my iPhone Notes app thats superlong: I add everything Im learning so I can reference it when I talk to people or talk to doctors. For me, the knowledge is comforting. My cousin got married in May; it was a big family wedding, and I shared Outlive and the chapter on Alzheimers with my entire extended family. Ive asked my cousins, When was the last time you got your cholesterol checked? Ive become the nutty cousin.

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Anonymous, 41, New Jersey

My father is very into genealogy, so on a whim, we did 23andMe. At some point, I logged on and it said, Were now testing for the Alzheimers gene. Click this button if you want these results. And I was like, Okay, whatever. So I clicked it. I didnt think much about my results. Then a couple years go by and Chris Hemsworth started talking about this, and I was like, Oh my God.

I pretty much had a nervous break. Im a person who runs a tight ship: Im always getting a million things done, and it was alarming for my husband because hes never really seen me so emotional. I was crying a lot, and I wasnt eating. Everything I was reading about APOE4 talks about the plaques on your brain, which they say you can prevent through fasting and maintaining a certain diet and being thin. I dont know if its even healthy, but I became hyperfixated on being thin so I dont cause plaques on my brain.

Every day, I wish I could go back, that I had never found out this information. Knowing my APOE status drives my entire life. I used to be a very, very social person. I have lots of friends, I would have wine nights with them, I would go out every weekend. My kids are 12, 9, and 7, and its not like I didnt spend time with them I just had an active life outside of them, too. That has significantly declined. Now I dont like to leave my family. I dont want to be away from my kids. I dont want to miss anything with them. I only work two days a week now so I can be with them, go to all their sporting events, and drive them everywhere. Im also constantly stressed about going out and drinking because I know drinking alcohol can cause plaques in your brain, too. I do feel like knowing this status has changed who I used to be. So much of my identity now is how my kids do, and I dont know if thats healthy, either. But I get so upset because I feel like Im going to miss out on all their lives.

A couple months ago, I tried to get long-term-care coverage because of all this. We found a really solid plan I was giddy with excitement because it would provide exactly what I was looking for. It was hard to even explain it to our financial planner because its a weird request for somebody to make at 40. This is a policy people take out in their 60s. It was going to cost us an insane amount in premiums: $100,000 over the course of ten years. No normal person would pay it, but my husband was willing to because we knew itd provide me complete peace of mind. Like if something does happen to me, at least there is a plan in place for me and my family. I didnt disclose to the insurance company about the 23andMe stuff or the APOE genes because then I would never have gotten the policy. But I ended up getting denied for the plan anyway because Im too thin.

The foundational question about this type of genetic testing is whether it is actually beneficial to people. I was frustrated with 23andMe because theyre giving you such heavy information with no context, no background. Its like somebody telling you youre gonna get cancer and then thats the end of it. Let me tell you, with this information, there are no resources for me. If it were a breast-cancer gene I got, I would just go get surgery and take my breasts off. There would be a plan. With the APOE4, I could barely get an appointment with a neurologist. They did not want to see me unless I was having cognitive issues, but Im not because Im only 41 years old. I reached out to 23andMe because I was having so much anxiety, and I also talked to an independent genetic counselor. They said to me that their results are not 100 percent accurate. Their results could be wrong. I could be making myself sick over this, and this might never even happen. If you do retest, then that becomes a part of your medical history. Health insurance cant deny you because of these things, but life-insurance and long-term-care plans absolutely can. Once its in your chart, itll haunt you forever.

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Charlotte, 34, New Haven, Connecticut

I have an autism diagnosis: ASD1, which has the lowest support needs. I was in school and just trying to manage my life and my executive dysfunction. That was my overall issue: not feeling capable of brushing my hair and taking a shower and going to school and going to work in the same day. So I was looking into genetic testing to see if, aside from just being highly medicated, there was some way to help long term. But the only interesting thing on my genetic testing was the APOE4 genes.

I felt like there was some mystery to be unlocked like I could figure out if I just Googled enough. I started getting certain supplements and going to the sauna all the time because they said the heat-shock proteins are supposed to clear out the plaques in your brain. I did some cryotherapy. I started growing lions mane, which is supposed to have neuroregenerative effects; I sourced a log to put in my backyard, which I inoculated with spores. Then my friend whos a researcher made a comment. He said something like The reason self-help books and these podcasts are so popular, especially in America, is because they give us the illusion of control and productivity, even if there isnt really. And my explosive problem-solving process was just more to feel like I have control of my destiny than that I actually gained control of anything. I grew up on a farm and we had working dogs, and if theyre not doing something, theyre tearing up the couch. It felt like the same energy: all these people having to put their energy toward something even if its not the Solution.

I will say that knowing my APOE4 status changed the trajectory of my life planning. Before, I didnt know if I wanted kids. Then I think I just softened toward the idea of having a family because if my life is gonna be short anyway, I just wanted to give part of myself while I still have it. I was going to school and was pretty focused on doing something in the medical field; I was taking some premed and nursing classes. Now the timeline was shortened a little bit. If it looks like I can only successfully work until Im 70, then will I have enough time in my 30s to finish a minimum eight-year education, then pay off student debt? How much time do I even have to accomplish this? Im taking a break from school now, but if I were to go back, Ill probably focus on something that utilizes mind power, so I can stay sharp, but that wont require taking on as much debt because I dont know how much time I have to pay it off.

You know whats so weird? After getting my results, I actually started being nicer. I was always very shy and really reserved, and I would be grumpy toward anybody that was, like, trying to be nice to me, maybe because I didnt feel like I had the bandwidth for it. But Ive almost started taking myself less seriously, maybe almost in a self-preservation sense. Because if Im gonna be really grumpy and unpleasant and crazy and have no faculties in, like, 30 years, Im gonna need a community. This is something I should start preparing myself for now.

I just had a baby. Im 34, my husband is 38. If this affects me around 75, then my kids would only know me until theyre my age and my husbands age. I just want to make sure Im as good to the people around me for as long as I can be, until I cant be.

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Rebecca Haddad, 34, Pittsburgh

When I was in school to be a physicians assistant, I was in a working group and our discussion topic was the ethics of take-home DNA tests. Youre opening Pandoras box and giving these tests to people who dont have a good grasp on where to fit these answers into the puzzle of their whole life. You could get a negative DNA-test result and be like, Oh, like, Im in the clear, not go to your preventive appointments, and have this false sense of security. But at the same time, you dont want to live your life just so terrified of something thats so out of your control. In my group that day, Alzheimers specifically came up. Everybody was saying, Oh my God, I would never want to know. And I was just sitting there like, Yeah, man, thatd be really terrible, knowing full well that I already had this information.

When I first got my results, I made a choice. I dont want to live my life so tied up in this genetic finding. I could live my whole life taking choline and all these supplements and I could still get it. Or I could do none of those things and never get the disease. Or I could get hit by a bus tomorrow on my way to work.

About six months ago, I was dating a doctor at my work. I told him about my APOE4 status because I thought, of all people, he would understand what this test result meant. I thought he would be like, Okay, it wasnt a big deal. But he had this very overblown reaction. He was like, Thats an early Alzheimers indicator. You need to go to a geneticist and get this testing done. It was devastating not because I wanted that relationship to continue, but his reaction almost validated these huge scary feelings Id had about it when I first got my results.

Donna Dorans. Photo: Dina Litovsky

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Donna Dorans, 70, Agawam, Massachusetts

When I found out, I was sort of numb. Then I started researching. Googling. Im an occupational therapist, so I understand a lot of medicine and I was looking at the real details of what happens to the brain. I became very anxious. My family thought I was going crazy. With the APOE4, what happens is that eventually you have problems with glucose in the brain. So I started changing how I ate. Ketosis is recommended by a lot of people. So I started cutting out a lot of carbs.

What was going through my head was, If Im not going to prevent it, maybe I can stall it as much as I can. I have to follow this protocol. It backfired. Some of the diets are so restrictive that you start eliminating things you probably shouldnt. I had started losing weight because I was trying to cut back on carbs, but Im a small person to begin with. Thats not healthy for muscles, and at my age, you start losing muscle mass. I used to drink a lot of milk, but I was also trying to cut back on dairy and trying to get calcium through other foods, which I later realized wasnt good for my bones. Small people are more at risk for osteoporosis, which I did develop. I was never a big red-meat eater but would eat some here and there; then I stopped and later learned I wasnt getting my iron. I started eating a lot more vegetables, but if you eat a lot of certain vegetables that are cruciferous or raw, it can interfere with your thyroid. I started having thyroid trouble. I wasnt getting enough iodine because of the way I was eating.

Ive learned the hard way that whats supposedly healthy isnt always as healthy as you think. I tried to add some stuff back into my diet. Still, my biggest fear is that its going to start soon. Theres times when I think, Oh, is this it? But so far, it hasnt yet that I know of.

Brett Memsic. Photo: Dina Litovsky

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Brett Memsic, 39, Los Angeles

The biggest way this has affected my day-to-day life is my paranoia about forgetting things. From the time I was in high school, I felt like I remembered everything almost photographically. But now my friends will remember stories from a couple of years ago or quotes from movies that I dont. When things like that happen, I spiral a bit more. If I cant remember something, I dwell on it for like 12 hours until I do. In conversations with my fiance, Ill get stuck on trying to remember everything and bring her into it; we cant advance the conversation and talk about something else until I remember it. Its a constant thing in the back of my head whenever I forget something or whenever I dont remember something immediately: Is this happening now or sooner than normal? Is it a linear thing where Im actually like 15 percent impacted by this and just dont know it yet?

In general, Im pretty nonreactive to bad things happening. I maintain a similar baseline. But Monday, May 6, 2024, was a turning point for me. In my last couple years after getting the test, it was like, Well, this thing exists, but there was enough deniability or enough of a likelihood that I wasnt gonna get it. What was so scary about this study the New York Times wrote about that Monday was that theres potentially a causal link between the APOE4 allele and Alzheimers, and it may be more of a guarantee. It made it a lot more real. My fiance and I had a conversation where I broke down a bit because its like, This affects you a lot, too. Were getting married in October. Later, I mentioned my APOE4 status to one friend and he joked that my fiance still has a couple months to upgrade to a better model.

Patricia Avvocato. Photo: Dina Litovsky

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Patricia Avvocato, 61, Rye Brook

When II read the genetic test, I was not surprised. Most of the women in my family have had a history of Alzheimers before dying. It was never diagnosed officially because they never went to doctors.

At first, I brushed it off. I said, Well, Im doing everything that I know you have to do for brain health already. I manage my sleep, my diet, and I always exercise. Ive never had junk food in my life. What else is there to do? Why torture myself?

I was in my 50s, and around that time I was more interested in making sure I did not go into menopause. It is very funny how I had never put the two together. I just wanted to have vigor and vitality. I found a rheumatologist, who put me on bioidentical hormone replacement. When I told him my APOE4 results, he said, Well, you need to go on rapamycin. Its an immunosuppressant that, at normal dosage, is used to prevent rejection of organ transplants and is used off-label for many things, including neurodegenerative diseases.

He put me in contact with this man Alan Green, in Little Neck, Long Island, whos in his 80s. And he agreed that I should go on rapamycin. So Ive been taking that for about five years. And Im in all this Wild West type of care with certain doctors who are into regenerative medicine, both here in the United States and in Colombia, where I go to visit my mom about three times a year. They dont have so many restrictions there, so Ive been able to tap into unapproved treatments.

I have a daughter whos 31 years old. I am a great believer that, if I do go on a path where there is no way to end my life with my brain intact and being able to live an independent life, she can terminate my life. Ive seen the deterioration. My mothers mother lived with her until she died, and she could barely go from one place to another in the same apartment. It was just very, very sad. Its been shown that caretakers actually start aging faster than the people with neurodegenerative diseases just from caring for them. My daughter will have a power of attorney to take me to Dignitas in Switzerland and terminate my life.

These days, I dont rush anymore. I used to be always anxious that I needed to be at a certain place at a certain time, and Id do too many things. I was working too many hours. I would exercise only on the weekend. Instead of working five days a week, Im working three days a week now because then I wanted to dedicate more time for exercise, for relaxing, for meditation. If something doesnt get done today, it doesnt get done.

Miguel Delgado. Photo: Dina Litovsky

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Miguel Delgado, 30, Los Angeles

After I found out I carried two copies of the gene, I started preaching about it to my family. I told my mother and brother, Hey, itd be nice to know if you are at risk of any diseases. It turns out were all three double-E4 carriers. But I dont think my family realizes what it means.

My mothers a very religious person. I dont know if she believes in genetic predisposition. Im sure she does to some degree, but I feel shes much more of a Maybe we can pray and make sure we dont carry them kind of thing. Its just that talking about death is taboo in a way; it seems like youre speaking it into existence.

She had a mini-stroke last year. We never got a diagnosis, but I think thats what it was. So it gets me a little worried. She doesnt eat well. Money makes a difference, right? Since she works a manual-labor job shes a quality-control inspector at a pork factory she comes home and just wants something easy. Fast food or whatever, its easy to grab. Shes very much a daily bread eater, like your classic Mexican bread, very sugary, heavy on carbs. She drinks a lot of Coke. So Ive been trying to I wouldnt say scold her about it, or maybe I do. I try to explain the severity of it and how she needs to take better care of her body.

My moms big thing is being self-reliant. So I try to convince her by saying that if she were to get something like this, that would take away from my brother and me because wed have to care for her. Im pretty hopeful. Luckily, she is fortunate enough that she could afford the salmon. She never ate salmon before. I got her eating salmon at least once a week now. So its an improvement. I even bought her Peter Attias book in Spanish, and I think she got through two chapters of it. She said she wasnt training to be a doctor or something.

My dad hasnt given me a definite answer on why he doesnt want to take the test. For a while, at least for a year, I was bringing it up every once in a while. But at the end of the day, even if I do find out if he has it, it doesnt change my genetic makeup, unfortunately.

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Jane Bailey, 74, Litchfield, Connecticut

My whole life, Ive known about dementia. When I was very young, I heard stories from my mother about my grandmother. I never met my grandmother; she died of dementia when I was only 3 years old. My mother said she probably had Alzheimers but they didnt know a lot back then about Alzheimers. She ended up in an institution. Then when I was in my 30s, my mothers sister was starting to suffer from Alzheimers. And then in my 40s, my mother-in-law developed Alzheimers.

Shes not related to me, but it was through the experience of seeing her degradation that I realized how awful a disease this is. She had always been a very organized and very elegant person, and she had set aside boxes where she had labeled what we were going to get when she died, like, Jane and Steve get the crystal and so-and-so. When the Alzheimers developed, we knew she was going to have to go into a home, and we got those boxes of things that were labeled for us. We got the crystal and put it on our credenza. One day, she came to visit us when she was going really downhill, and she said, You stole my crystal.

No, Mom, we didnt steal your crystal, we said. Thats what you gave to us.

No, I wouldnt have given away my crystal.

We would have to seat her so that her back was to the credenza so she wouldnt see the crystal and get triggered. It was the change in personality that, above all else, was very, very hard to look at: When my mother-in-law eventually died, in 1999, I couldnt even cry because she had really died a couple years before. Then my mother was diagnosed in 2008.

Two years after she died, in 2015, my daughter gave me a gift of 23andMe for Christmas. The report told me I had two copies of the gene. I was 67 at the time. By age 75, the general population has a 3 percent chance of developing Alzheimers, but I would have a 28 percent chance at my age pretty much right now. Im 74. And then for women at age 85, it jumps to a 60 percent chance versus a general population with a 14 percent chance.

I didnt feel bad about it. It was a blinking yellow caution light: Watch out, youre getting older. I wanted to be armed for a battle. I could see from watching my mother-in-law and my mother that they would lose a sense of time and not know what to do. So I said, Okay, I have to develop a really good habit for putting my keys on the hallway table. I cant put them anywhere else. I have to sleep for eight hours. I have to eat healthy. I have to do less multitasking. I always would join whatever club or organization I join and was always willing to take on a leadership position. Now, I just want to relax a little. I used to be on Facebook a lot more, and now I just feel like I dont want to waste my time on that. Id rather read or play Scrabble with my husband. Routines are more important. But I dont know how much of this is related to APOE4 and how much is just related to being 74.

If I were honest, I feel its probably inevitable that Ill develop Alzheimers. But no ones losing sleep over APOE4, least of all me. My son says, Oh, Mom, you seem fine. Im only 33, and Im already forgetting things. My husband will say, Dont worry, Ill just call the white coats and get someone in to do my laundry and cook my meals. I think, Okay, if I were to lose my memory, what is it that I want my family to do for me? I want them to understand that I need to be talked to softly. I want music thats quiet. I want somebody to read me poetry, maybe.

As she went into heavier Alzheimers, my mother got sweeter. More relaxed. She seemed able to live moment to moment and not worry about what she could remember or what she couldnt. While my mother-in-law was like, I need to remember this, and yet couldnt remember, my mother was like, Oh well, I cant remember it. She didnt seem to fight it.

Now, I keep saying two things to myself. One is to create good memories now and dont make bad memories. Make good ones because thats whats going to be there and you want them to get into long-term memory. Now, Ill consciously say to myself, This is going to be a good memory. Wow, this is a great day. I have to remember this one when Im old. But I also say to myself, Just enjoy the moment. Dont worry about whether its creating a memory or not. I guess what I dont know is, Does appreciating the moment-to-moment require memory? I will say, right now, that when you really focus on a moment, it often bridges to other moments.

For example, right this second Im looking out my dining-room window and I see a beautiful forsythia bush thats in full bloom. I cant look at it without seeing my sister and myself 50 years ago. When I was probably 8 years old, my mother took a picture of us in front of a forsythia bush at home in Staten Island. Today, Im looking at this one, and I say, God, thats a gorgeous forsythia bush. But its more than that. Its also the memory thats embedded in it.

Correction: The print edition of this story incorrectly credited the portfolios photographer. It is by Dina Litovsky.

Thank you for subscribing and supporting our journalism. If you prefer to read in print, you can also find this article in the July 15, 2024, issue of New YorkMagazine.

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Ten People on Finding Out They Have the Alzheimers Gene - New York Magazine

A woman who gifted her boyfriend an at-home DNA test for Christmas was left reeling by the results.

Diamond Jane, 25, gifted her boyfriend Garrett a 23andMe test, and when the results came back, they learned he had Neanderthal DNAand quite a lot of it.

And while Diamond Jane was "laughing" about the result, her partner finds it "empowering."

She told Newsweek: "He feels lucky to have close ties to the first humans to roam the Earth."

Neanderthals were early humans who lived around 400,000 years ago and went extinct around 40,000 years ago, and are recognized as our closest ancient human relatives.

For part of their existence, Neanderthals lived alongside early modern humans, and some bred together, with some humans inheriting Neanderthal DNA, according to the U.K.'s Natural History Museum.

And in a viral video shared to her TikTok account @diamondmaglietta on June 11, Diamond Jane first showed a photograph of the pair together before then revealing the results of the test.

It told Garrett he had "more Neanderthal DNA than 82 percent of other customers."

And, writing on the video, Diamond Jane said she found out "more than I wanted to know," but "at least we didn't find out we're related."

Having been viewed 2.5 million times and garnering 203,000 likes, the comments were filled with hundreds telling their own stories, including one who joked: "My husband found out the same thing and honestly it explains so much."

"My dad got 93 percent and swears it's a flex," another said, and one revealed their friend found out they had 89 percent: "I made fun of her relentlessly, then I did 23andMe... I have 92 percent."

"The way I would never let this go," one user wrote, with Diamond Jane replying: "I haven't."

Speaking to Newsweek, the certified nursing assistant from California said of her partner: "Growing up I've always heard of the word 'Neanderthal' as an insult but apparently, to him, it's empowering."

She explained: "I thought it would be a fun and interesting way to get to know him better and he enjoyed finding out about his family history because he's always talked about wanting to know more about it."

Genetic testing outside of a medical setting has exploded in popularity in recent years, with the likes of 23andMe, AncestryDNA, MyHeritage and more all offering ways to explore your background.

Like Garrett and some of the commenters, sometimes people can learn they have Neanderthal DNA from these tests: earlier this year, one man went viral after his test results showed he possessed 98 percent more than the average person.

At the time, Newsweek spoke to Cesar de la Fuente, a University of Pennsylvania engineering presidential assistant professor involved in research into ancient DNA.

He said: "Results like this could imply significant interbreeding between an individual's ancestors and Neanderthals, but further research is likely needed to confirm this and understand its implications accurately.

"The effects of Neanderthal DNA remains a very much active area of research."

Do you have funny and adorable videos or pictures you want to share? Send them to life@newsweek.com with some extra details, and they could appear on our website.

Newsweek is committed to challenging conventional wisdom and finding connections in the search for common ground.

Newsweek is committed to challenging conventional wisdom and finding connections in the search for common ground.

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Man Does DNA Test, Gets Result He Was Never Expecting: 'Neanderthal' - Newsweek

A New York Times story this week about tennis legend Chris Everts battletwicewith ovarian cancer painted a simple and powerful picture: Fearing for her own risk after her sister died of the disease, Evert got tested, caught it early, as stage 1, and treated it successfully in 2022. And though it returnedstage 1 again, meaning it had not spreadshe was able to catch that, too, and treat it again. Now the 69-year-old has been declared cancer-free a second time.

As with her original diagnosis, the story notes, early testing was criticala message Ms. Evert shares zealously.

Except for just one problem: When it comes to ovarian cancer, there is no such thing as early testing.

There is no approved screening. There is no method of early detection, Sarah DeFeo, chief program officer at the Ovarian Cancer Research Alliance (OCRA), tells Fortune. Its a rare disease, with a one-in-87 over-lifetime risk, so its not something that happens as part of a well-woman checkup, whether with a gynecologist or regular internal medicine.

Thats because, says Dr. Gillian Hanley, a member of OCRAs scientific advisory committee and an associate professor of obstetrics and gynecology at the University of British Columbia, all of the screening methods that have been tried have failed to decrease mortality rates to date, which is how we determine whether or not a screening method is effective.

While there are some standard ways of surveilling for ovarian cancer if it is suspectedincluding a CA-125 blood test that could possibly indicate tumor markers and a transvaginal ultrasound that could help identify massesthey are imprecise. Plus, they are not indicated or available to women in the absence of either symptomswhich tend to only reveal themselves once the cancer has progressed significantlyor a high-risk factor, meaning the patient has already tested positive for carrying genetic markers that significantly raise the possibility of getting ovarian cancer.

If youre just a regular, average-risk person walking around in the world, a doctor may be like, [a routine scan is] not medically indicated. Theres no need for that Theres no evidence to suggest that ultrasounds are effective,' says DeFeo. So thats not something that is recommended. Its not neutral its like, No, dont do it.

Instead, what women should consider, she says, is getting tested for genetic markers. Its something Evert has talked about previouslyhaving tested positive for the BRCA-1 gene after her sisters death, then undergoing a preventative hysterectomy with removal of her ovaries and fallopian tubes. It was only then, through the pathology report, that she learned she had stage 1 ovarian cancer (which returned, even after the surgery, due to the fact that microscopic cancer cells can sometimes remain in the abdomen).

None of those details were mentioned in the most recent New York Times articlebut they are actually the most vital, says DeFeo.

She has talked a lot about getting tested early, but to me, the real story is about the importance of knowing your risk and about risk management, she says. I think that thats the important takeaway from her story.

Much of the current wisdom around screening comes out of the disappointing 2021 results of a U.K.-based clinical trial that followed 200,000 women for more than 20 years, concluding that screening and symptom awareness do not save lives.

The trial, which was the largest of its kind in the world, randomized patients into three groups: 1) no screening, 2) annual screening with ultrasound, and 3) annual screening with ultrasound and CA-125 blood test. It found no evidence of lives saved in the groups that were tested. We therefore cannot recommend ovarian cancer screening for the general population using these methods, lead investigator Dr. Usha Menon noted at the time.

This is whats tricky and devastating about ovarian cancer, that it needs to be caught so much earlier, we think, in order for it to impact mortality, says DeFeo. Its not about catching it three months earlier We need to find a way to catch this disease years earlier.

But as of now, thats not possible. The technology doesnt exist, she says. Plus, adds Hanley, most cases of ovarian cancer appear to originate in the fallopian tubeswhich are not easily reached or biopsied.

Its why OCRAs recommendation officially switched last year from symptom awareness and early detection to something else entirely: the preventative removal of ones fallopian tubes, called a salpingectomy. Its an approach that has been endorsed by the American College of Obstetricians and Gynecologists (ACOG) since 2015.

The recommendation applies not only to those who test positive for high genetic risk, such as with BRCA-1 or BRCA-2 gene mutations, but also for all women planning to undergo another pelvic surgery (such as with a hysterectomy, endometriosis, or removal of cysts) if they are finished or not planning on having kids. (For women with the higher risk, an oophorectomy, or prophylactic removal of ovaries, is also recommended.)

So again, were not saying that your regular woman on the street needs to go in and have this elective surgery, says DeFeo. But we know that hundreds of thousands of women are having surgery every year anyway, for a different reason, where they could take the opportunity to take out their tubes at the same time, potentially. Its something that they should talk to their doctor about, and its something that doctors should be thinking about.

Besides salpingectomy, the other most powerful tool in ovarian cancer prevention is genetic testing, which you can begin by looking at your family history. I know that in many families that can be hard, says DeFeo. But to the extent that you can look at your family history, and if you have a family history of cancer, especially breast and ovarian cancers, and especially at a young agethose are red flags.

Hanley adds that it is important to look at both sides of your family. There is a misconception that family history is only relevant on your mothers side, but you can inherit a BRCA mutation from your father as well, she says. So on either side of your family, if there is a history of breast or ovarian cancer, potentially even prostate or pancreatic cancers, then getting a BRCA test is a very good idea.

Then, talk to your doctor about getting it started.

DeFeo notes that genetic testing is more accessible than ever. A lot of insurance covers it. It really depends on each persons situation, but the cost of testing has come down dramatically over the course of the years, she says. So it is increasingly accessible. And OCRA, for example, offers a free genetic testing program.

From there, if you are positive, prophylactic surgeries would be recommended, as was the case with Evert.

She would never have been symptomatic, says Hanley. Theres no screening method that would have picked that up. The only reason that cancer was diagnosed is because her fallopian tubes were removed and then they were very, very carefully analyzed by a pathologistand that doesnt occur outside of the case of a BRCA mutation.

But Hanley, like others in the field, is counting on that to change. Were all hopeful that with technology and better understanding, we may still one day be able to develop a screening method that works, she says. But were a long way away from that.

More on cancer:

Read the rest here:
Ovarian cancer and Chris Evert: Why early detection doesn't help - Fortune

Most people are carriers for at least one genetic condition, meaning that any individual might need the help of a genetic counsellor a few times throughout their lifetime.

Last month, UK-based Sano Genetics launched Light the Way, an online support platform offering genetic testing and counselling for people suffering from motor neurone disease (MND) or with a family history of the condition.

As the demand for genetic testing and counselling booms, new approaches such as AI are being utilised to address the shortage of genetic counsellors.

Digital genetics company Igentifys digital genetic assistant (DGA) uses AI to power genetic counselling. It develops personalised multimedia content to explain genetic test results and consent processes to patients digitally. The platform which integrates with labs and healthcare providers automates parts of the counselling workflow, from scheduling tests to automatically generating reports.

Co-founder and CEO Dr Doron Behar says Igentifys platform can address the growing demand for clinical genetic testing: The demand for clinical genetic testing is skyrocketing. In todays market, we have over 27 million annual clinical genetic tests that are being done globally. But for all of these, we have only 7000 genetic counsellors available worldwide.

Behar explained that many people would prefer an automated video instead of a face-to-face appointment, due to waiting lists, and healthcare providers having a limited time for each patient. This is supported by data from Igentifys expanded carrier screen (ECS) study (NCT04248504).

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The ECS study evaluated the DGA in 225 couples undergoing ECS via the Thermo Fisher Scientific CarrierScan. Results demonstrated that the system saved traditional face-to-face or telephonic counselling in 73% of couples who were not carriers of a mutation in the same gene. Out of these, only 5.4% requested face-to-face counselling. In addition, patient survey responses showed that 90% of patients preferred digital results.

The AI genetic consultancy raised $10.5m in a 2019 funding round led by life sciences venture fund aMoon and crowdfunding platform OurCrowd. Founded in 2016, Igentify has partnered with companies such as Illumina and Thermo Fisher Scientific for its DGA.

AI is expected to drive the next industrial revolution, according to a report on GlobalDatas Medical Intelligence Center. Analysts estimate the total AI market will be worth $1tn by 2030, up from $103bn in 2023.

You simply dont have enough personnel to explain about the booming of knowledge in medicine to follow up on patients and so forth. We are here to pioneer and be part of this revolution, concluded Behar.

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How Igentify are revolutionising genetic testing using AI - Medical Device Network

The global sequencing market size was valued at USD 15.59 billion in 2023 and is poised to grow from USD 19.05 billion in 2024 to hit around USD 115.85 billion by 2033, at a CAGR of 22.21% during the forecast period 2023- 2032.

The increasing demand for applications such as personalized medicine and genetic testing is expected to drive the growth of the sequencing market during the forecast period.

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Key Takeaways

The sequencing market is all about the technologies and services that allow us to read and understand the genetic code of living organisms. This involves identifying the order of DNA or RNA nucleotides, which are the building blocks of life. By doing this, scientists can learn a lot about how organisms' function, how diseases develop, and how we might treat them.

Sequencing Market at a Glance

The sequencing market is a rapidly expanding sector driven by the increasing application of DNA and RNA sequencing technologies across various fields. Sequencing is the process of determining the order of nucleotides in DNA or RNA, and it has become a fundamental tool in modern biology and medicine. With the advancements in technology, sequencing has become faster, more accurate, and more affordable, leading to its widespread adoption.

One of the main drivers of the sequencing market is its significant role in personalized medicine. By understanding an individual's genetic makeup, healthcare providers can tailor treatments to the specific needs of the patient, leading to more effective and targeted therapies. This is particularly important in the treatment of cancers, where sequencing can help identify the most appropriate drugs and treatment plans based on the genetic mutations present in the tumor.

Another important application of sequencing is in genetic testing. This allows individuals to learn about their ancestry, identify genetic disorders, and understand their risks for certain diseases.

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Emphasis on Personalized Medicine to Expand the Markets Growth

One of the most drivers of the sequencing market is the rise of personalized medicines. Next-generation sequencing (NSG) technology has revolutionized the way we understand and treat diseases by enabling the identification of genetic variations. These variations can influence a persons risk of developing certain diseases, how a disease progresses, and how an individual responds to treatment.

Personalized medicine aims to tailor medical treatment to the individual characteristics of each patient. By analyzing a patient's genetic profile, healthcare providers can develop more effective treatment plans that are specifically designed for that person.

A recent example of the impact of personalized medicine is the field of oncology. Cancer treatments have historically been based on the type and stage of cancer, but NGS has enabled a more nuanced approach. For instance, in 2023, a study highlighted how NGS was used to identify specific genetic mutations in patients with lung cancer. This allowed doctors to prescribe targeted therapies that were more effective than standard chemotherapy. As a result, patients experienced better outcomes, including higher survival rates and fewer side effects.

Rising Cancer Research to Boost the Markets Growth

Increasing cancer research is a significant driver of the sequencing market. Next generation sequencing (NGS) is an incredibly powerful tool that enables scientists to uncover the genetic mutations responsible for cancer development and progression. By providing details insights into the genetic landscape of cancer, NGS plays a crucial role in the fight against this complex disease.

One of the most important aspects of NGS in cancer research is its ability to identify specific genetic mutations that can drive cancer. These mutations often vary from patient to patient, making it challenging to develop universal treatment.

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Challenges with Data Analysis to Hamper the Markets Growth

One significant restraint on the growth of the sequencing market is the challenge of data analysis. Next-generation sequencing (NGS) produces vast amounts of data, which can be both a blessing and a curse. While this data is incredibly valuable, analyzing and interpreting it accurately requires advanced computational tools and expertise in bioinformatics. Unfortunately, the shortage of skilled personnel in this field can create a significant bottleneck for many institutions. NGS technology can sequence millions of DNA fragments in a single run, generating terabytes of data that need to be processed and analyzed. This data includes not just the sequences themselves but also information about genetic variations, mutations, and other anomalies.

A recent example highlighting this challenge is the COVID-19 pandemic. The rapid spread of the virus created an urgent need for genome sequencing to track mutations and understand the virus's evolution. Many countries ramped up their sequencing efforts, producing an unprecedented amount of genomic data.

Application in Non-human Fields to Offer Opportunities

In agriculture, next generation sequencing is playing a critical role in crop improvement. By sequencing the genomes of various plants, researchers can identify traits associated with higher yields, disease resistance, and environmental tolerance. For example, scientists have used NGS to develop drought-resistant corn varieties, ensuring food security in regions prone to water scarcity.

Animal breeding is another area where NGS is making significant strides. Traditionally, selective breeding relied on phenotypic traits, which could take generations to manifest. With NGS, breeders can now identify and select desirable genetic traits much faster. For instance, in dairy cattle, sequencing can help identify genes associated with higher milk production or disease resistance, leading to healthier herds and improved dairy yields.

Environmental science is also benefiting from the advancements in NGS. Researchers use this technology to monitor biodiversity, track the spread of invasive species, and understand ecological dynamics. A notable example is the use of environmental DNA (eDNA) sequencing to monitor aquatic ecosystems.

A recent example illustrating the growing application of NGS is the use of metagenomics in soil analysis. Researchers have begun using NGS to study the complex microbial communities in soil, which play a crucial role in nutrient cycling and plant health.

North America to Sustain as a Leader in the Market

North America has been a dominant force in the sequencing market, contributing to the largest revenue share in 2023. This region's leadership can be attributed to continuous technological advancements and significant investments in research and development. The United States and Canada, with their well-established healthcare infrastructures, are at the forefront of this growth. Notably, initiatives like the AMD program in the U.S. are enhancing capabilities by integrating next-generation sequencing tools in public health systems, thereby driving market expansion.

Asia Pacific to Grow on a Rapid Pace in the Sequencing Market

The Asia Pacific region is expected to witness the fastest growth in the sequencing market during the forecast period. Countries such as China, Japan, and India are at the center of this expansion. The presence of regional companies like BGI Genomics and the availability of NGS services from providers like First BASE Laboratories Sdn Bhd are driving market growth. In India, the "10,000 genomes" initiative by the Department of Biotechnology (DBT) aims to establish an Indian whole-genome sequencing reference database, highlighting the region's commitment to advancing genomic research.

India is a particularly noteworthy market within the Asia Pacific region. With its vast and genetically diverse population, India offers significant opportunities for genomic research. The conclusion of the "10,000 genomes" initiative is a major milestone, aiming to create a comprehensive reference database for whole-genome sequencing in India. Recent developments in India also include the establishment of advanced sequencing facilities and collaborations with global genomic companies.

By Product & Services, the Consumables to Lead the Market as a Major Segment

The consumables segment, which includes kits, reagents, and accessories, dominated the sequencing market in 2023. Consumables are essential for the sequencing process as they are used in every step, from sample preparation to the actual sequencing and data analysis. The high frequency of use and the need for constant replenishment make consumables a critical component, driving significant revenue.

By Workflow, the Sequencing Segment to Sustain its Dominance in the Upcoming Period

Within the workflow category, the sequencing segment held the largest revenue share in 2023. Sequencing involves the actual process of determining the order of nucleotides in DNA or RNA. Advances in sequencing technology have significantly reduced costs and increased speed and accuracy, making this segment the backbone of the entire genomic analysis process.

By Application, the Oncology Segment to Lead the Market

Oncology was the dominant application segment in 2023, reflecting the critical role of sequencing in cancer research and treatment. Sequencing technologies help identify genetic mutations and alterations that drive cancer, enabling personalized treatment plans and improving patient outcomes. The rising prevalence of cancer worldwide continues to boost the demand for sequencing in oncology.

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Segments Covered in Sequencing Market Report

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Continued here:
Sequencing Market Size to Rise at a Healthy 22.21% of CAGR to Reach USD 115.85 Billion by 2033 - BioSpace

A simple blood draw or saliva sample can identify opportunities for prevention, single out the best clinical trials, and improve treatment outcomes.

This type of genetic testing can cost hundreds of dollars, and is sometimes not covered by insurance.

We actually recognize that it's going to be the most cost-effective care as well, Stephen Gruber, chair of the Center for Precision Medicine at City of Hope, said.

City of Hope is one of the first cancer centers in the world to offer free genetic testing to every single patient, and possibly their immediate families.

Someone I recently spoke to was identified to have a genetic change that increased her risk for breast and ovarian cancer, and we got those results in just before she was about to start chemotherapy, City of Hope genetic counselor manager Bita Nehoray said. It actually changed things for her, and we were able to offer her a more appropriate and better line of therapy."

The panel tests 189 genes related to the risk of cancer and other inherited diseases.

It's been a tremendous game changer, as it relates to prevention in families, but also in really personalizing the most appropriate treatment plan, Nehoray said.

Taking part in the genetic testing is completely free to the patients. City of Hope will soon begin offering the inspire study testing nationwide in their locations in Los Angeles, Atlanta, Chicago, and Phoenix.

Watch the video above for the full story.

Read more from the original source:
Medical Breakthroughs: Using genetic testing to improve treatment outcomes - KRGV

According to the latest report the global precision diagnostics market size was USD 76.19 billion in 2023, calculated at USD 86.48 billion in 2024, and is expected to reach around USD 270.31 billion by 2033, expanding at a CAGR of 13.5% from 2024 to 2033. North America dominated the market with the largest revenue share of 49.19% in 2023.

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The precision diagnostics market refers to the segment of the healthcare industry that focuses on the development and application of diagnostic tests and tools designed to accurately detect and characterize diseases at a molecular or genetic level. Precision diagnostics aim to provide tailored and precise information that can guide personalized treatment decisions, improve patient outcomes, and reduce healthcare costs. These diagnostics encompass a wide range of technologies including genetic testing, molecular diagnostics, companion diagnostics, next-generation sequencing (NGS), biomarker analysis, and advanced imaging techniques.

Growth factors

Precision Diagnostics Market Key Takeaways

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Market dynamics

Driver

Rising demand for early detection of diseases

Precision diagnostics provide the ability to detect diseases at an early stage, improving the chances of successful treatment and reducing healthcare costs by avoiding late-stage interventions. Focused on offering Multiple countries with the support of government fundings and private investments are focusing on early detection of diseases, this acts as a major driver for the market. The expanding field of precision medicine, which relies heavily on precision diagnostics for patient stratification and treatment selection, propels the demand for advanced diagnostic tools.

Restraint

Complexity in data interpretation

The high cost of advanced diagnostic tests and technologies can limit their accessibility and affordability, particularly in low- and middle-income countries. The complexity of interpreting genetic and molecular data requires specialized expertise and infrastructure, which can be a barrier to widespread adoption in clinical settings. Stringent regulatory requirements and varying regulations across different regions can pose challenges for the approval and commercialization of precision diagnostics.

Opportunity

Growing healthcare infrastructure and increasing investments in emerging markets present significant opportunities for the expansion of precision diagnostics in regions such as Asia-Pacific and Latin America. The integration of precision diagnostics with digital health technologies, such as telemedicine and health informatics, can improve patient management and facilitate remote monitoring and diagnosis. Thereby, the integration of digital health is observed to act as an opportunity for the market.

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U.S. Precision Diagnostics Market Size and Growth 2024 to 2033

The U.S. precision diagnostics market size was estimated at USD 26.23 billion in 2023 and is projected to hit around USD 97.19 billion by 2033, growing at a CAGR of 12.73% during the forecast period from 2024 to 2033.

North America dominated the precision diagnostics market with the largest revenue share of 49.19% in 2023, mainly the U.S., which is known for its advanced healthcare infrastructure and robust biotechnology research sectors. Continuous investments and developments in these areas have led to innovations in personalized diagnostics technologies, making them more efficient and reliable. Government initiatives in North America aimed at improving healthcare quality and accessibility, along with funding for research and development in the field of diagnostics, have significantly contributed to the market growth.

U.S. Precision Diagnostics Market Trends

The precision diagnostics market in the U.S. is expected to grow at the fastest CAGR over the forecast period, driven by advancements in genomic medicine, increased awareness of personalized healthcare, the integration ofartificial intelligence (AI)in diagnostic processes, and rising demand for early and more accurate disease detection. Precision diagnostics, which includesgenetic testing, molecular diagnostics, and companion diagnostics, among others, focus on identifying unique genetic and biomolecular characteristics to guide more tailored treatment strategies.

The U.S. government and private sectors have supported research and initiatives related toprecision medicineand diagnostics. Programs such as the Precision Medicine Initiative (PMI) aim to revolutionize how diseases are treated and prevented by considering individual differences in peoples genes, environments, and lifestyles.

Europe Precision Diagnostics Market Trends

The precision diagnostics market in Europe was identified as a lucrative region in this industry. The Europe market is experiencing significant growth. This growth can be attributed to advancements in technologies, increasing healthcare expenditures, the rising prevalence of chronic diseases, and the growing emphasis onpersonalized medicine. The regulatory environment in Europe is also adapting to the advancements in precision diagnostics, with efforts to streamline approval processes for new diagnostic technologies. In addition, collaborations between diagnostic companies, research institutions, and healthcare providers are fostering innovation and accelerating the development of new diagnostic solutions.

The UK precision diagnostics market held a significant share in 2023.There is a growing emphasis on personalized healthcare in the UK. Treatments and diagnostics are tailored to individual genetic profiles, improving patient outcomes and treatment efficacy. The UK government and healthcare system are supportive of precision medicine initiatives. For instance, the NHS has launched the 100,000 Genomes Project and continues to invest in genomic medicine, creating a conducive environment for the growth of precision diagnostics.

The precision diagnostics market in France is expected to grow at a remarkable CAGR over the forecast period,driven by the increasing incidence of chronic diseases, such as cancer, cardiovascular diseases, and diabetes, which has heightened the demand for early and accurate diagnostic solutions. This need is critical in managing these conditions effectively, leading to a push for advancements in diagnostic technologies. France has an aging population. This demographic trend results in a higher prevalence of various diseases, necessitating the development and implementation of advanced diagnostic tools to cater to the growing healthcare needs of this segment of the population.

The Germany precision diagnostics market is anticipated to grow at a significant CAGR over the forecast period.The Germany market is characterized by a strong focus on innovation and quality, reflecting the country's leading position in healthcare and medical technology. With a robust healthcare system and a high level of spending on healthcare relative to GDP, Germany presents a productive ground for the growth and adoption of personalized diagnostics technologies. Regulatory frameworks in Germany are designed to ensure patient safety while promoting technological advancements. The Federal Institute for Drugs and Medical Devices (BfArM) and the Paul-Ehrlich-Institute (PEI) are key regulatory bodies that oversee the approval and market surveillance of diagnostic products. These agencies work to balance innovation with strict safety standards, ensuring that new diagnostic technologies entering the market are effective and reliable.

Asia Pacific Precision Diagnostics Market Trends

The precision diagnostics market in Asia Pacific is anticipated to grow at the fastest CAGR of 12.8% over the forecast period. The increasing prevalence of chronic diseases, such as cancer and diabetes, in this region drives the demand for advanced diagnostic methods that can provide personalized treatment options. The growing awareness and acceptance of precision diagnostics among healthcare professionals and patients contribute to this rapid growth. Improvements in healthcare infrastructure, mainly in emerging economies such as China and India, along with government initiatives aimed at incorporating advanced healthcare technologies, further bolster the market expansion. The rising investment in healthcare research and development, coupled with collaborations between public and private sectors in the field of precision medicine, are also significant contributors.

The China precision diagnostics market is expected to grow at a rapid CAGR over the forecast period. China has seen rapid advancements in healthcare infrastructure and technology. The government and private sector have invested robustly in healthcare innovation, particularly in precision medicine, which includesgenomicsand personalized healthcare solutions. This focus aligns with the global trend toward more personalized and precise medical interventions based on individual genetic and molecular profiles.

The precision diagnostics market in Japan has one of the highest proportions of elderly citizens in the world. This demographic trend increases the demand for healthcare services, including precision diagnostics, as older populations typically have higher incidences of chronic diseases such as cancer, cardiovascular diseases, and neurological disorders. The Japanese government actively promotes healthcare innovation through funding, research programs, and regulatory reforms designed to facilitate the development and adoption of new medical technologies. Initiatives such as the Japan Health Sciences Foundation and the Japan Agency for Medical Research and Development (AMED) support research in precision medicine and diagnostics.

Middle East & Africa Precision Diagnostics Market Trends

The precision diagnostics market in Middle East & Africa is expected to grow at a exponential CAGR over the forecast period. Countries across the MEA are significantly investing in healthcare infrastructure and services. This includes the development of state-of-the-art medical facilities and hospitals, which are essential for implementing advanced diagnostic technologies. The MEA region is witnessing a surge in chronic diseases such as diabetes, cardiovascular diseases, and cancer. Precision diagnostics play a crucial role in the early detection and management of these conditions, making them important in regional healthcare.

The Saudi Arabia precision diagnostics market is expected to grow at the fastest CAGR over the forecast period. The Saudi Arabian government has been actively investing in healthcare infrastructure and digital health technologies as part of its Vision 2030 program. This includes initiatives aimed at enhancing the precision diagnostics sector, such as funding for research and development and the establishment of state-of-the-art medical facilities equipped with the latest diagnostic technologies. There has been an increase in the prevalence of chronic diseases such as diabetes, cardiovascular diseases, and cancer in Saudi Arabia. Precision diagnostics play a crucial role in the early detection and management of these conditions, driving demand for advanced diagnostic services.

The precision diagnostics market in Kuwait is anticipated to grow at a significant CAGR over the forecast period. Kuwait is witnessing a substantial adoption of digital health technologies. The use of artificial intelligence (AI) andmachine learningfor data analysis in healthcare is becoming more common. These technologies are improving the accuracy and efficiency of disease diagnosis and treatment plans, thus boosting the capabilities of precision diagnostics. There's a focus on ensuring that healthcare professionals in Kuwait are up-to-date with the latest diagnostic technologies and techniques. Education and training programs are critical for equipping the healthcare workforce with the necessary skills to utilize precision diagnostics tools effectively.

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Precision Diagnostics Market By Type Insights

Based on type, the genetic tests segment led the market with the largest revenue share of 45.15% in 2023. The dominance of genetic tests in the market can be attributed to technological advancements, a better understanding of genetic disorders, the rise of personalized medicine, an increase in chronic diseases and cancer, consumer interest, and a supportive regulatory environment. Furthermore, the sector has witnessed significant investments and collaborations between diagnostic companies, pharmaceutical companies, and academic institutions. These partnerships aim to develop new genetic tests and integrate them into clinical practice, further driving market growth. For instance, in January 2024, DNAnexus, Inc. and TMA Precision Health announced a collaboration to enhance diagnostic processes and treatment alternatives for rare diseases. This partnership is focused on developing more accurate and efficient diagnostic tools that can lead to better personalized treatment plans for individuals suffering from rare conditions.

The Direct-to-Consumer Tests (DTC)segment is anticipated to register at the fastest CAGR from 2024 to 2033. There's a growing awareness among consumers about the importance of early disease detection and personalized health information. DTC tests provide a convenient way for individuals to access health information directly without necessarily going through a healthcare provider. Advancements in genomic sequencing technologies and bioinformatics have made it easier and more cost-effective to offer these tests directly to consumers. This has led to an increase in the variety and accuracy of tests available, from genetic predisposition to certain conditions to personalized nutrition and fitness advice. Regulatory bodies in some regions have started providing clearer frameworks and guidelines for DTC genetic testing, which has helped companies navigate the approval process more efficiently and bring their products to market.

Precision Diagnostics Market By Application Insights

Based on application, the oncology segment led the market with the largest revenue share of 25.7%in 2023. This is primarily due to the increasing prevalence of cancer worldwide and the need for early detection and monitoring of this disease. According to the American Cancer Society, approximately 1.96 million new cases of cancer were diagnosed in 2023. This high prevalence demands more personalized and accurate diagnostic methods to identify specific cancer types and their genetic makeup, facilitating targeted treatment approaches. In addition, government investment in this segment is expected to boost the market in the forecast years. For instance, in the U.S., the National Cancer Institute (NCI) received USD 7.8 billion from the government and a USD 500 million increase from the Fiscal Year 2023 budget to support personalized medicine.

The genetic diseases application segment is expected to grow at the fastest CAGR during the forecast period. The rising incidence of genetic disorders worldwide is driving the demand for personalized diagnostic solutions. Conditions such as cystic fibrosis, sickle cell anemia, and various forms of cancer have genetic roots, necessitating advanced diagnostics for early detection and management. The advent of next-generation sequencing (NGS) and other high-throughput technologies has revolutionized genetic testing. These advancements have made it possible to analyze and interpret large volumes of genetic data quickly and cost-effectively, thereby accelerating the growth of precision diagnostics in identifying genetic diseases.

Precision Diagnostics Market By End-use Insights

Based on end-use, the clinical laboratories segment led the market with the largest revenue share of 48.11% in 2023.Clinical laboratories play a key role in the market, primarily due to their extensive use of advanced diagnostic technologies for accurate disease detection and monitoring. Precision diagnostics often requires the interpretation of complex data, such as genetic mutations or biomarker levels. Clinical laboratories have the expertise and personnel, such as pathologists and geneticists, to interpret these results accurately, making them a crucial end-use segment. Furthermore,clinical laboratories offer a wide range of diagnostic services, from routine blood tests to complex genetic testing. This flexibility attracts a broad patient base, further driving the demand for personalized diagnostics.

The hospital segment is anticipated to grow at a significant CAGR during the forecast period. Hospitals are adopting precision diagnostic technologies, driven by the need for more accurate and individualized patient care. This adoption is facilitated by advancements in diagnostic technologies, such as next-generation sequencing (NGS), PCR (polymerase chain reaction), and liquid biopsy, which are becoming more accessible and integrated into hospital settings. In addition, rising investment and collaborations by private players in the market are expected to support market growth. For instance, in January 2024, Qlucore Insights, a software development company for precision diagnostics, signed an agreement with Sahlgrenska University Hospital in Sweden. Through the agreement, the hospital will use the Qlucore Insights software to improve the diagnosis of acute lymphoblastic leukemia in children.

Related report:

Diagnostic Testing Market : https://www.biospace.com/article/releases/diagnostic-testing-market-size-to-reach-usd-449-78-billion-by-2033/

Genomics Market: https://www.biospace.com/article/releases/genomics-market-size-to-hit-usd-157-47-billion-by-2033/

Oncology Market : https://www.biospace.com/article/releases/laxman-dige-precedenceresearch-com/

Biotechnology Market : https://www.biospace.com/article/biotechnology-market-size-to-reach-usd-5-68-trillion-by-2033/

Next Generation Sequencing Market : https://www.biospace.com/article/next-generation-sequencing-market-size-to-reach-usd-66-04-bn-by-2033/

Single Cell Genome Sequencing Market : https://www.biospace.com/article/releases/single-cell-genome-sequencing-market-size-to-hit-usd-12-79-bn-by-2032/

DNA Diagnostics Market: https://www.biospace.com/article/releases/dna-diagnostics-market-size-to-hit-usd-16-05-billion-by-2033/

Liquid Biopsy Market : https://www.biospace.com/article/releases/liquid-biopsy-industry-is-rising-rapidly-up-to-usd-32-54-bn-by-2033/

Point Of Care Diagnostics Market : https://www.biospace.com/article/point-of-care-diagnostics-market-size-to-increase-usd-80-75-bn-by-2033/

Clinical Trials Market : https://www.biospace.com/article/releases/clinical-trials-market-size-to-increase-usd-153-59-billion-by-2033/

Breast Cancer Diagnostics Market: https://www.biospace.com/article/breast-cancer-diagnostics-market-size-share-and-growth-report-2033/

U.S. Oncology Molecular Diagnostics Market: https://www.biospace.com/article/u-s-oncology-molecular-diagnostics-market-size-to-reach-usd-2-74-bn-by-2033/

U.S. In Vitro Diagnostics Market: https://www.biospace.com/article/releases/u-s-in-vitro-diagnostics-market-size-to-hit-usd-45-78-bn-by-2033/

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U.S. Biotechnology Market : https://www.biospace.com/article/releases/u-s-biotechnology-market-size-to-increase-usd-1-79-trillion-by-2033/

Antibiotics Market: https://www.biospace.com/article/releases/antibiotics-market-size-to-reach-usd-85-80-billion-by-2033/

U.S. Cancer Biopsy Market : https://www.biospace.com/article/releases/u-s-cancer-biopsy-market-size-to-surpass-usd-29-34-bn-by-2033/

U.S. Next Generation Sequencing Market: https://www.biospace.com/article/releases/u-s-next-generation-sequencing-market-size-to-worth-usd-25-71-bn-by-2033/

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Immuno-Oncology (IO) Market : https://www.biospace.com/article/immuno-oncology-io-market-size-to-hit-usd-284-29-billion-by-2033/

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Precision Diagnostics Market Recent Developments

Key Precision Diagnostics Company Insights

The market players operating in the global market are adopting product approval to increase the reach of their products in the market and improve the availability of their products in diverse geographical areas, along with expansion as a strategy to enhance production/research activities. In addition, several market players are acquiring smaller players to strengthen their market position. This strategy enables companies to increase their capabilities, expand their product portfolios, and improve their competencies.

The following are the leading companies in the precision diagnostics market. These companies collectively hold the largest market share and dictate industry trends.

Precision Diagnostics Market Report Segmentation

This report forecasts revenue growth at country levels and provides an analysis of the latest industry trends in each of the sub-segments from 2021 to 2033. For this study, Nova one advisor, Inc. has segmented the Precision Diagnostics market.

By Type

By Application

By End-use

By Region

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Precision Diagnostics Market Size to Reach USD 270.31 Billion by 2033 - BioSpace

Color Health, a genetic testing company, is using OpenAI's newest, less expensive, large language model to equip doctors with pretreatment workup expertise that could speed up prior authorization requests for cancer screening diagnostics and get patients into treatment faster.

The company has also partnered with the University of California San Francisco to study how the cancer copilot tool performs in surfacing early warning signs, seemingly incongruous red flags and other pertinent details that may be deeply dispersed throughout electronic health records and other patient information.

WHY IT MATTERS

While decision factors for different types of cancers vary, a trial of the technology helped providers analyze patient records in five minutes, according to the company.

"Primary care doctors dont tend to either have the time or sometimes even the expertise, to risk-adjust peoples screening guidelines," Othman Laraki, cofounder and chief executive of Color Health, said in aWall Street JournalreportMonday.

The UCSF Helen Diller Family Comprehensive Cancer Center is testing Colors copilot for cancer pretreatment diagnostic work-ups by comparing it to retrospective analyses of cancer patient charts.

Though that study is in the early stages, according to a Color Spokesperson, if AI can ultimately reduce wait times for cancer treatment by connecting the dots, that's a patient care win.

In Color'sannouncementMonday, Laraki said the company designed the tool to address the supply gap in oncology expertise to decide on a pre-treatment workup for a patient with a confirmed malignancy.

The goal is to offer primary care doctors and other clinicians an AI service that can determine what tests are needed to inform the patient's cancer treatment, without waiting for the patient to see an oncologist before pretreatment diagnostics are ordered and the prior authorization process is initiated, he explained.

"That way, by the time the patient meets her oncologist for the first time, she has a much higher chance of being ready to initiate treatment and, we hope, save weeks of precious time."

Laraki also stressed the clinician's role in decision-making when using the tool.

"One of the most important design decisions behind our work is that the tools were built from the ground up to be based on a human-in-the-loop model," he said.

The company said it will share the results of the first use case tested which focuses on automating the analysis of a persons background risk factors and then applying the guidelines that adjust their screening plan first with individuals in its cancer program, and then give primary care doctors a chance to review the information.

Color estimated that physicians using the cancer copilot will have supported more than 200,000 patient cases in generating AI personalized care plans by the end of the year.

THE LARGER TREND

Before focusing on tools to help doctors improve cancer patient outcomes, Color launched its model of patient-initiated proactive testing in 2015. The tests focused on genes known to increase an individuals cancer risk, such as BRCA1 and BRCA2 for breast, ovarian cancer and pancreatic.

Within a few years, theunicorn, along with 23andMe and other companies, shattered patient barriers to cancer screening not previously possible by offering low-cost, over-the-counter home test kits that could illuminate key genetic risk factors.

Using AI for a new decision support service that empowers PCPs to get their patients with cancer into treatment faster is a budding area in healthcare AI where automating physician note-taking and reducing clinical administrative burden have made up the majority of mainstream LLM use cases.

However, applying machine learning to health data is amajor opportunityto enhance health outcomes for individuals and populations.

AI could be instrumental in disease management, said Xin Wang, assistant professor in the University at Albany department of epidemiology and biostatistics.

"By analyzing patient data over time, AI algorithms can predict individual patient risks, suggest personalized treatment plans and even alert healthcare providers to early signs of complications," he toldHealthcare IT Newsin January.

"This proactive approach can lead to earlier interventions, better disease management and, ultimately, improved health outcomes."

ON THE RECORD

"We see a perfect fit for AI technology, for language models," Brad Lightcap, OpenAIs chief operating officer, said in theWSJstory. "They can give clinicians more tools to understand medical records, to understand data, to understand labs and diagnostics."

Andrea Fox is senior editor of Healthcare IT News. Email:afox@himss.org Healthcare IT News is a HIMSS Media publication.

The HIMSS AI in Healthcare Forum is scheduled to take place September 5-6 in Boston.Learn more and register.

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Color Health uses OpenAI to develop cancer screening copilot for doctors - Healthcare IT News

Welcome to the weekly edition of Healthcare IT Today Bonus Features. This article will be a weekly roundup of interesting stories, product announcements, new hires, partnerships, research studies, awards, sales, and more. Because theres so much happening out there in healthcare IT we arent able to cover in our full articles, we still want to make sure youre informed of all the latest news, announcements, and stories happening to help you better do your job.

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If you have news that youd like us to consider for a future edition ofHealthcare IT Today Bonus Features, please submit them onthis page. Please include any relevant links and let us know if news is under embargo. Note that submissions received after the close of business on Thursday may not be included in Bonus Features until the following week.

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Bonus Features June 16, 2024 40% of patients are willing to follow medical advice generated by AI, genetic testing ... - Healthcare IT Today

Genetics discoveries are rapidly identifying the people at greater risk for cancers and other diseases, but researchers at HealthPartners are concerned that they are happening too fast for doctors and patients to keep up.

The Bloomington-based health care provider is testing a new alert system to close that knowledge gap by identifying patients with inherited risks for diseases and automatically alerting their doctors of their need for testing. Screening guidelines changed three times in the past 18 months, just for breast and ovarian cancers, after researchers identified genetic variants that increased risks of those diseases, said Dr. Patrick O'Connor, a senior researcher with HealthPartners Institute.

"There is a risk of information overload," O'Connor said. "That's why we're creating a system to help organize these data in a way that's clear to patients so they can make informed decisions about treatment options that may be of benefit to them."

Using a $3.2 million federal grant announced earlier this week, HealthPartners hopes its alert system will hasten testing, which in turn will hasten diagnosis and treatment of diseases before they become severe or fatal. The goal is precision medicine tailoring treatments based on patients' unique circumstances but O'Connor said there are many examples in health care now when that approach is underused.

Research has identified numerous genetic variants that affect the course of type 2 diabetes, for instance, but those nuances aren't widely used right now to customize treatments, O'Connor said. Antidepressants are dispensed at a common starter dosage without consideration of the known variants that can dictate how well they will work, he added.

HealthPartners' study will identify patients at 40 clinics in Minnesota and western Wisconsin who haven't followed up on genetic testing results, even though they have one of seven variants linked to elevated risks of breast, colon or ovarian cancers. Doctors at 20 of those clinics will be prompted by the new alert system to talk with these patients about recommended tests or treatments. Researchers expect that these patients will receive more recommended screenings over the next three years than a comparison group of patients at the 20 other clinics that aren't receiving alerts.

Genes are chemical strands that program the body's cells based on hereditary information passed down from parents to children. Millions of variations alter how genes work in the body, but a much smaller portion has been linked through research so far to elevated rates of disease.

The Centers for Disease Control and Prevention recommends testing for 11 genetic variants that have proven links to cancer or heart disease, including the variants of the BRCA1 and BRCA2 genes that are closely tied to breast cancer. The American College of Medical Genetics and Genomics lists 81 variants that should be reported to doctors and patients because of their links to treatable conditions.

If HealthPartners' system works, it will be expanded to alert patients to other clinically important variants. Some only cause minute shifts in disease risks, while one known variation can increase lifetime risk of ovarian cancer from 1% to 70%. Another can identify smokers who have the best chance of reducing heart attack risks if they quit their habits.

"The difference can be gigantic in some cases," O'Connor said.

Deenya Craig, 52, of Maple Grove didn't hesitate when testing identified a BRCA2 mutation that increased her cancer risks and explained her family's tragic history with the disease. One cousin recently died from prostate cancer while another struggled with an aggressive breast cancer. The result "opened doors that previously had been closed," she said, including consultations with cancer specialists and insurance coverage of preventive treatments. She had a mastectomy last year to remove breast tissue that posed cancer risks, and had a gynecological procedure this month to reduce her risks for ovarian cancer.

Craig spread the word of her results, and now her sisters and three of her six children have been tested. Her whole genome testing of thousands of genes at once produced other interesting information about her susceptibility to caffeine and sleep disturbances, but mostly she said she felt empowered by the knowledge about her cancer risks.

"It gives the control back to you over your health instead of sitting and wondering what, if or when," Craig said.

Craig received free testing through HealthPartners' partnership with California-based Helix Inc. to gather genetic data from 100,000 volunteers. The myGenetics program is designed to alert volunteers to health risks but also amass genetic information for further identification of troublesome variants. Out of 40,000 volunteers, testing has found more than 600 with inherited risks for breast, colon or ovarian cancers.

Mayo Clinic will soon publish interim data from a similar project called Tapestry, which is recruiting 100,000 volunteers from its campuses in Minnesota, Arizona and Florida to identify those with any of the 11 CDC-identified variants. Results will show how many people with these variants wouldn't have qualified for screening under current insurance and health system guidelines, said Dr. Jewel Samadder, co-director of precision oncology at Mayo Clinic's cancer center in Arizona.

Mayo also will be following 15,000 of these patients over five years to compare their health and health care spending with patients who don't have any of the variants. Screening just for the breast cancer variants used to cost $5,000, but now tests of thousands of genes at once cost around $500. Samadder said health systems will need to expand to account for a new generation of patients who are acting on this affordable genetic information.

Some studies already estimate that the cost is low enough to warrant widespread testing because it will end up saving money by identifying cancers before they require high-cost treatments.

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Genetic discoveries map out your health risks, if you can keep up with them - Star Tribune

Data protection watchdogs in Canada and the UK have announced a joint investigation into a data breach at genetics testing company 23andMe that affected seven million customers in 2023.

Since 2006, San Francisco-based genetic testing company 23andMe has sold over 12 million DNA testing kits. It analyses customers saliva to provide insights into health and ancestry.

In October 2023, 23andMe reported a security breach in which hackers gained access to the personal information of millions of customers by using old passwords. In some cases, the information accessed included family trees, birth years and geographic locations.

The Information Commissioner's Office (ICO) in the UK and the Office of the Privacy Commissioner of Canada (OPC) will examine the scope of information that was exposed by the breach and potential harms to affected people.

John Edwards, the UK information commissioner, said: People need to trust that any organisation handling their most sensitive personal information has the appropriate security and safeguards in place.

He added: This data breach had an international impact, and we look forward to collaborating with our Canadian counterparts to ensure the personal information of people in the UK is protected.

The strength of 23andMes safeguards to protect the information within its control will also be investigated, as well as whether the company provided adequate notification about the breach to the two regulators and affected people.

Philippe Dufresne, the Canadian privacy commissioner, said: In the wrong hands, an individuals genetic information could be misused for surveillance or discrimination. Ensuring that personal information is adequately protected against attacks by malicious actors is an important focus for privacy authorities in Canada and around the world.

According to the Guardian, a 23andMe spokesperson had previously said that the company did not detect a breach within its systems and instead attributed the incident to compromised recycled login credentials from certain users.

However, 23andMe has said it will cooperate with the investigation and the regulators reasonable requests.

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Genetics testing company 23andMe to be probed over a data breach that affected 7 million users - E&T Magazine

Three years after 23andMe completed a dizzying IPO at a valuation of $3.5 billion, the genetic testing company is considering going private again. As is typical for SPAC IPOs, the company enjoyed a peak market value of $6 billion shortly after the IPO, but has since seen a continuous decline and is currently trading below $300 million. How is it that a company that raised over a billion dollars, once boasted famous investors like Richard Branson and was named "Invention of the Year" by Time Magazine, is today traded at such a low value? The reasons were actually predictable.

Recently, CEO Anne Wojcicki announced that the company plans to purchase all existing shares and make it private again. Wojcicki herself owns 20% of company shares, which she has received over the years as part of her compensation policy. Anne is the sister of Susan Wojcicki, the former CEO of YouTube, and the ex-wife of Sergey Brin, one of the founders of Google. Brin and Google were early investors in 23andMe and one of the reasons for its great success in the beginning.

Since it was established in 2006 and until today, the company has raised $1.8 billion, while it has never recorded a profit. 2023 was a particularly terrible year and included three rounds of layoffs, with sales of approximately $300 million - a 32% drop compared to 2019 - and a record loss of $312 million. In a conversation with investors, Wojcicki attributed the loss to a drop in sales of genetic testing kits, as well as a drop in research revenue after ending her main collaboration with the pharmaceutical giant GSK, with which she had a controversial agreement to share genetic information that she had collected on her clients. The complex financial situation and the lack of new channels for raising capital have now led Wojcicki to a last resort - to take the company private in order to bring in new investors.

Celebrities held "spit parties"

Wojcicki founded the company with geneticist Linda Avey who came up with the idea, and who she pushed out three years later, maintaining exclusive control ever since. For a period of time the company was a great success and for good reasons - the product was interesting and made genetic tests accessible to the general public for the first time, something which used to be the domain of medicine and law enforcement. Suddenly, with a little saliva, anyone who wanted to could gain new insights about their ancestry, and even locate relatives they never knew existed. Celebrities held "spit parties," and Wojcicki gained both fame and the admiration of Silicon Valley as an innovative entrepreneur.

But the same problem has always hovered over the company's activity: a genetic test is only conducted once, so if this is the core of the company's activity, the ability to grow is very limited, even more so if you happen to have a competitor or two (such as Ancestry and the Israeli MyHeritage). As a result, this led to the inevitable and desperate search for complementary products, but how much more can a home DNA testing business expand? It turns out, not much, and in any case, what was offered was not a business model that could prosper. Among other things, a genetic test for dogs was developed (Because who doesn't want to know the genetic makeup of their mixed dog?) and family tree building services. Even if these are compelling offers, how many times can you do it?

Additionally, since 2019 the public has understood that these companies do as they please with their customers most sensitive data, including selling their genetic information to pharmaceutical companies for research. This has understandably caused the public to be suspicious of genetic testing companies, especially 23andMe. This concern has proved to be justified; not only have these databases been used by law enforcement to solve crimes, but data leaks and hacks happened more than once. The most recent hack took place on October 6, when 23andMe servers were hacked and the genetic information of a million users - mostly Ashkenazi Jews - were stolen.

23andMe then tried to develop into another equally complex field: pharmaceuticals. They sought to develop and market new drugs based on research on the genetic samples theyd collected over the years and whose owners consented to the use of their samples for research purposes (13 million samples). But drug development is an expensive, slow and rather risky business, and the company was unable to introduce new sources of income quickly enough. Accordingly, the stock plummeted by 98% in the last three years.

Alongside drug developments, the company tried to develop complementary health services based on "polygenic scores. These grades are taken from crossing the list of known genetic variations with the genetic information of any person, and their purpose is to reflect the tendency of that person to any disease. 23andMe has published over 30 such scores for illnesses such as depression, PTSD and bipolar disorder. However, experts in the field including geneticists and psychiatrists believe this to be an immature science. Because the scores do not weigh other contributing factors, experts say that they are not useful and can lead to unfounded panic.

Researchers were actually so alarmed by the popular polygenic grading service that 23andMe developed that they appealed to the FDA demanding that such grades be banned, fearing that such data could lead to life-threatening psychological stress. Of course, this did not prevent the company from launching in November a product for subscribers that offers genetics-based medical treatment called Total Health and costs approximately $1,200 per year. At the same time, the company went through a series of layoffs and was hit with about 30 class action lawsuits surrounding the massive data breaches it experienced.

The challenge: to restore consumer trust

For 23andMe, the solution to the embarrassing situation is quite clear: it needs to restore consumer trust and make them believe that they can use their genetics-based medicine services (as a subscription program). The company must also identify new research partners and, above all, find the investors who are up for an adventure with a company that is losing profit and whose chief product can only be used once.

23andMes situation reveals quite a bit about the changing world and their failure to adapt to it. Public skepticism and ethical concerns regarding user data is enormous. Customers have become less interested in a few hundred dollars to give their genetic data to a company, only for this data to be sold to third parties or to make themselves vulnerable to abuse either by hackers or by government agencies for policing. Prospective 23andMe customers today need to consider whether the promise of bridging medical disparities is worth the potential insecurity. Under these current conditions, the future of 23andMe seems nothing short of impossible.

Go here to read the rest:
23andMes promise of genetic testing has been shattered - CTech

Dr. Dave goes on to explain its important to understand genetic therapies are not just for genetic ALS. We can use gene therapy to go after sporadic ALS because we know that there are certain proteins that are involved in 90% of ALS. And if we can go after those proteins using gene therapy approaches, we can now go and treat all ALS, and not just a particular genetic subtype. And that's the future of gene therapy. How can we use gene therapy to go after the sporadic forms of ALS?

More genetic testing and counseling will help identify more people living with the disease who could benefit from gene therapies; people like Larry Falivena.

In August 2017, Larry heard those three terrible words: You have ALS. Like most who experience the lengthy diagnosis process, Larry suspected that was the case, but actually, hearing it from his doctor was devastating. A husband and father of two young boys, he had so many plans for the future, or so he thought.

After his diagnosis, Larry was encouraged to get a genetic test even though he had no known family history of ALS, and he says making that decision changed the course of his diseaseand his life. Sure enough, aSOD1mutation was found, a known genetic cause for the disease.

Larry was able to get into an ongoing clinical trial for a treatment of SOD1-ALS called tofersen, now known as Qalsody.

Read more from the original source:
Let's See More Genetic Testing and Counseling - ALS Association

Introduction

The global genetic testing market was valued at USD 15.9 billion in 2022 and is expected to reach USD 39.2 billion by 2032, growing at a CAGR of 9.7% from 2023 to 2032. This growth is driven by the increasing prevalence of genetic disorders, rising demand for personalized medicine, and advancements in genetic testing technologies, such as the adoption of next-generation sequencing (NGS) which is anticipated to grow at a CAGR of 22.8%.

Key growth factors include the rising incidence of cancer and other genetic diseases, necessitating early diagnosis and intervention. Due to heightened awareness and the push for early detection of genetic anomalies, the adoption of genetic testing in prenatal and newborn screening is also increasing. The prenatal and newborn testing segment dominated the market in 2022, reflecting the increasing focus on early genetic diagnosis.

Despite these growth drivers, the market faces significant challenges. The high cost of genetic testing, which can range from under USD 100 to over USD 2,000 depending on the complexity of the test, remains a major barrier to widespread adoption. Additionally, regulatory hurdles and data privacy concerns further impede market growth. Stringent regulatory requirements slow down the introduction of new tests, while fears of genetic discrimination and unauthorized data access deter potential users.

Recent developments in the genetic testing market include significant mergers, acquisitions, and funding activities that are shaping the industry. For instance, Labcorps aggressive M&A strategy includes a USD 239 million acquisition of Invitaes assets, expanding its presence in oncology and rare diseases. This follows Labcorps USD 237 million purchase of BioReference Healths clinical diagnostics and womens health business, expected to generate USD 100 million in annual revenue. Veracyte also acquired C2i Genomics for up to USD 95 million, enhancing its cancer diagnostics capabilities.

Additionally, Gilead Sciences secured USD 210 million in funding from Abingworth to advance its antibody-drug conjugate, Trodelvy, for non-small cell lung cancer. These activities reflect a dynamic market focused on expanding capabilities and leveraging strategic partnerships to drive growth and innovation.

In conclusion, the genetic testing market is poised for substantial growth, fueled by technological advancements and increasing awareness of genetic disorders. However, addressing cost and regulatory challenges will be crucial to realizing this potential. The markets trajectory underscores the importance of innovation and strategic collaboration in overcoming these barriers and expanding the accessibility and efficacy of genetic testing globally.

See original here:
Genetic Testing Market To Hit USD ~39 Billion by 2032 - Market.us Media - United States Market News

Former U.S. Rep. Mayra Flores wants mandatory DNA testing of all immigrants and favors a return of the much-denounced policy of separating children from their parents at the border.

The Donald Trump administration utilized both practices and likely would resume them if he is elected in November; Trump has said he plans to resurrect all of his previous immigration policies and impose new ones that would be more severe, including the largest domestic deportation operation in Americas history.

Flores, who is running to regain the congressional seat she lost in 2022, defends those policies, although family separation has roundly been denounced as inhumane. Some of the children were mere infants. Worse, many of those children have not been reunited with their parents half a decade later.

Until recently, our stated immigration policy was to keep families together. Federal law prohibits keeping immigrant children in detention for more than 20 days. The Trump administration bypassed that law by reclassifying separated children as unaccompanied minors in order to detain them indefinitely.

Obviously the law was violated in spirit and it doesnt seem to matter to Flores, who seeks to return to Congress to enact such laws. In fact, Republican lawmakers have filed legislation that would mandate genetic testing of immigrants. Our own Sen. Ted Cruz submitted the bill in that chamber.

I dont care if these children are with us for months, she said at a February gathering of the conservative youth group Turning Point USA in Brownsville.

Flores said longer child detentions might be necessary to allow time for the DNA testing, which she says is needed to verify that the children in fact are related to the people who brought them.

Genetic testing shouldnt be needed for such evaluations; it shouldnt be hard to see a difference in a childs comportment with a parent or guardian as opposed to a total stranger.

Its also obvious that any DNA testing that was done in the past didnt work. Thousands of families remain separated and might never be reunited; records of those tests and related detentions if kept at all were so shoddy that officials continue looking for detained childrens parents and cant find them.

Moreover, laboratories across the country that would perform such tests would have difficulty handling the burden not to mention the expense. Labs currently are so backlogged with forensic testing that criminal cases are being delayed while they wait for evidence.

Widespread testing during the Trump term was slowed down further because the demand for the tests outpaced the supply. Trump and his supporters constantly throw out the term family values in their campaigns. Shredding families, regardless of their nationality or legal status, obviously clashes.

Keeping migrant families together isnt just the right thing to do, it seems the most practical and efficient. Processing them together should speed up the process and ensure that they receive visas together if they qualify, or are deported together if they dont.

Republicans penchant for punitive measures increasingly is defying not only practicality, but morality.

The following editorial published in AIM Media Texas on May 29:

Follow this link:
DNA testing of immigrants more trouble than it's worth - Victoria Advocate

One in 36 children are diagnosed with Autism Spectrum Disorder. But of those, very few actually know what specific gene mutation may be behind their diagnosis. National Health Reporter Erin Billups takes a look at how early genetic testing can improve treatment options and quality of life for patients.

He's happy. He's outgoing. He's more outgoing with adults than he is with children. He loves water play. Loves to swim, said Genie Egerton-Warbuton, who cant help but smile herself when she speaks about her 11-year-old son Rowland.

Like many expecting parents, during her pregnancy with Rowland, Egerton-Warbuton underwent prenatal testing.

I had to have a cesarean section. I'll never forget the doctor saying, you've given birth to a perfect, beautiful baby. Healthy, you know, healthy little boy that we know doesn't have any sort of issues or genetic abnormalities, etc. from this test, said Egerton-Warbuton.

But from his notched eyelids at birth to missed developmental milestones, Egerton-Warbuton, a former preschool teacher, knew something wasnt right.

It's not normal for a child not to walk until they're two. And even his gait wasn't appropriate. And he was able to say some words, but then he was losing the words. He was able to pick up food and kind of feed himself. But then the next day, he needed to be spoon fed. It was just kind of, things did not feel right, said Egerton-Warbuton.

When Rowland was four, he underwent another round of genetic testing and was finally diagnosed with a form of autism called ADNP syndrome a deficiency of the activity-dependent neuroprotective protein a mutation that wasnt included in the test when Rowland was in utero.

Certain characteristics are common in ADNP syndrome. (Spectrum News)

We know that protein is supposed to play a really important role in brain development, said Dr. Alex Kolevzon, director of the Seaver Autism Center at Mount Sinai Hospital in New York City, of the ADNP deficiency. The hallmarks of ADNP syndrome, like autism, are social communication problems.

Kolevzon said ADNP is now included on the genetic screening test for autism, along with more than 200 other known gene mutations that cause varying degrees of autism. ADNP accounts for about 0.2% of autism cases, but there may be even more who have it. Kolevzon says it is time for more families to get their kids tested.

Oftentimes, families don't fully appreciate the value of genetic testing. You know, they have a child, the child that has autism. And it's not clear how knowing what the genetic causes will actually impact the child's life, said Kolevzon.

The sooner families and doctors know, the better, said Kolevzon. While not every case of autism will have a genetic abnormality, its estimated that about 10 to 30 percent will find a known cause through testing.

For us, there's a kind of a shift towards more personalized medicine. And so, you know, if you know exactly what's wrong with the biology, it gives you an opportunity to develop more targeted treatments, said Kolevzon.

Rowland was enrolled in a study led by Kolevzon, with nine other kids with ADNP Syndrome.

Each child was given a very low dose of ketamine. Kolevzon said the drug may promote synaptic plasticity or nerve cell growth. Thats what they eventually found, participants saw improvement in sensory sensibilities, hyperactivity and repetitive behaviors. Larger studies are needed to confirm the findings.

After the infusion, the next day he said, Mommy, which was, you know, amazing, said Egerton-Warbuton. And we noticed that he was able to navigate a city street without walking into people.

Rowland Egerton-Warburton has been working on his communication. (Courtesy Genie Egerton-Warbuton)

Rowland continues to work on further developing his speech. He is also learning to use a device that will help him communicate.

Egerton-Warbuton said her hope is that as more people with autism and other brain-based disorders are tested, more resources will go toward finding transformative genetic therapies for ADNP and other disorders.

So many of these hospitals do want to collaborate and do want to help these children. But it's very hard when you have a small amount of children and adults, said Egerton-Warbuton. You just feel kind of stuck.

Go here to read the rest:
Early genetic testing could help children with autism - Spectrum News NY1

According to latest study, the U.S. precision medicine market size was estimated at USD 24.95 billion in 2023 and is projected to hit around USD 76.12 billion by 2033, growing at a CAGR of 11.80% during the forecast period from 2024 to 2033.

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Advancements in precision medicine have catalyzed significant growth in the U.S. market, leading to groundbreaking discoveries and FDA-approved treatments tailored to individual characteristics such as genetic makeup or tumor profiles. Routine molecular testing in cancer care empowers physicians to select treatments that enhance survival rates and minimize adverse effects for patients. However, the effectiveness of precision care hinges on the quality of diagnostic tests guiding treatment decisions.

The U.S. precision medicine market is experiencing rapid growth fueled by innovative approaches to disease prevention and treatment, such as personalized medicine. This approach considers individual differences in genes, environments, and lifestyles, with the goal of delivering targeted treatments to patients at the right time. The FDA plays a crucial role in ensuring the accuracy of Next Generation Sequencing (NGS) tests, which generate vast amounts of information posing novel regulatory challenges. To address this, the FDA has collaborated with industry stakeholders, laboratories, academia, and patient/professional societies to develop a flexible regulatory framework. This approach leverages consensus standards and state-of-the-art computing technology to support NGS test development, fostering innovation and accelerating access to reliable genetic tests. The Precision Medicine Initiative, led by the NIH, aims to understand how genetics, environment, and lifestyle impact disease prevention and treatment. Short-term goals focus on expanding precision medicine in cancer research, while long-term objectives aim to integrate precision medicine into all areas of healthcare. The All of Research Program, involving at least 1 million volunteers, underscores the initiative's commitment to large-scale precision medicine implementation nationwide.

U.S. Precision Medicine Market Key Takeaways

The Global Precision Medicine Market Size and share 2024 to 2033.

The global precision medicine market size is calculated at USD 91.72 billion for 2024 and is expected to reach around USD 246.30 billion by 2033, growing at a CAGR of 11.6% from 2024 to 2033, The North America market has captured 49.19% of the total revenue share in 2023.

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U.S. Precision Medicine Market Dynamics

Driver

Empowering Healthcare

Precision medicine, synonymous with personalized care, empowers healthcare providers to tailor specific treatments based on individual genetic, protein, and biological profiles. Particularly in cancer care, precision medicine focuses on how genetic or protein alterations in cancer cells influence treatment options. Beyond oncology, precision medicine offers versatile applications, leveraging lab test insights to craft personalized care plans with specific recommendations. This approach not only enhances diagnostic accuracy and treatment efficacy but also facilitates informed decisions regarding lifestyle modifications and preventive measures to mitigate cancer risks. As precision medicine continues to gain traction, its role in optimizing patient care drives growth in the U.S. precision medicine market, offering promising outcomes for patients and fostering innovation in healthcare delivery.

Restraint

Cost Challenges

The substantial costs associated with precision therapy, often reaching thousands or tens of thousands of dollars per month, exacerbate the financial burden of cancer diagnosis. Research indicates that a significant proportion of patients exhaust their assets within two years of diagnosis. The Center for Medicare and Medicaid Services' decision to cover genetic testing for advanced cancer patients is expected to incur an additional annual cost of $2.5 billion for the agency. These financial constraints pose challenges to the growth of the U.S. precision medicine market, hindering accessibility and affordability of innovative treatments for patients.

Opportunity

Advanced technologies for precision medicine

The surge in precision medicine technologies presents a compelling opportunity to enhance targeted care, potentially improving patient outcomes. However, this transformation also introduces complexities for health systems. As these technologies gain traction in routine clinical practice, they have the potential to revolutionize various aspects of care delivery, including care pathways, healthcare infrastructure, and patient experiences. The adoption of precision medicine is likely to raise equity considerations, ensuring equitable access to innovative treatments. Embracing these advancements presents an opportunity for growth in the U.S. precision medicine market, driving innovation and reshaping the healthcare landscape for the better.

Recent trends in U.S. precision medicine market:

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Report Highlights

By Technology

The U.S. precision medicine market is segmented into bioinformatics, big data analytics, drug discovery, gene sequencing, companion diagnostics, and other categories. The drug discovery segment stands out as the dominant force in this market. Precision medicine holds immense promise in enhancing the success rates of Phase II and III clinical trials by tailoring treatment options to patient subgroups based on molecular profiles, lifestyle, and environmental factors. Since its inception, precision medicine has witnessed a rapid expansion across various medical and healthcare applications, with oncology leading the charge in its implementation. This paradigm shift is revolutionizing the drug development process by pinpointing targets responsible for diseases in individual patients and stratifying clinical trials based on underlying mechanistic causes. As precision medicine continues to evolve, it is poised to drive innovation and advancements in the U.S. healthcare landscape, paving the way for more effective and personalized treatment approaches.

Precision medicine revolutionizes clinical trials by stratifying patients based on their genetic and molecular profiles, enabling more targeted and effective treatment approaches. This approach integrates clinical and molecular patient data to decipher the biological underpinnings of diseases, ultimately aiming for optimal patient outcomes. Clinical trials serve as the cornerstone for scientifically evaluating investigational agents, devices, and biologics, ranging from chemotherapy agents to gene therapies, in human volunteers to assess safety and efficacy. By leveraging precision medicine in clinical trial design, researchers can enhance trial efficacy and accelerate the development of innovative therapies tailored to individual patient needs, driving advancements in healthcare and pharmaceutical industries.

By Application Insights

The U.S. precision medicine market is segmented into CNS, immunology, oncology, respiratory, and other categories, with oncology emerging as the dominant sector. Precision medicine, as defined by the US National Cancer Institute, utilizes genetic, protein, and environmental information to prevent, diagnose, and treat diseases. While definitions may vary among stakeholders, targeted drug therapy, precision radiotherapy, and surgery are increasingly prevalent in clinical practice for both solid and hematological cancers. Precision medicine plays a pivotal role in modern cancer care, with comprehensive molecular profiling of tumors essential for identifying targetable abnormalities or biomarkers. Lung cancer exemplifies the significance of precision medicine, with genomic alterations soon expected to guide therapy in the majority of cases. As precision medicine continues to advance, its application in oncology promises to revolutionize cancer treatment, improving patient outcomes and driving growth in the U.S. precision medicine market.

By End-Use

In the U.S. precision medicine market, segmentation by end-users includes diagnostic companies, pharmaceutical companies, healthcare IT companies, and others, with pharmaceutical companies emerging as the dominant segment. Precision medicine is poised to revolutionize the entire pharmaceutical value chain, influencing early development stages through to go-to-market strategies. The next five years represent a critical window for pharmaceutical companies to capitalize on this transformative potential, necessitating proactive engagement and risk-taking across the healthcare ecosystem. Beyond enhancing disease detection, diagnosis, and treatment, precision medicine holds the promise of preventive healthcare by leveraging analytics to identify patient risks before they manifest. This proactive approach not only improves patient outcomes but also has the potential to lower costs for healthcare systems, underscoring the imperative for pharmaceutical companies to embrace precision medicine and drive innovation in the U.S. market.

By Sequencing Technology

In the U.S. precision medicine market, segmentation by sequencing technologies includes pyrosequencing, sequencing by synthesis, sequencing by ligation, single-molecule real-time sequencing (SMRT), ion semiconductor sequencing, chain termination sequencing, and nanopore sequencing, with the SMRT segment poised to dominate over the forecast period. While short-read massive parallel sequencing has become a standard diagnostic tool in medicine, it faces inherent limitations such as GC bias and difficulties in mapping to repetitive elements and discriminating analogous sequences. Single molecule real-time sequencers address these challenges by offering long-read capabilities, resulting in higher consensus accuracies and improved detection of epigenetic modifications from native DNA. As precision medicine continues to evolve, the adoption of SMRT sequencing technologies promises to enhance the accuracy and reliability of genetic analyses, driving advancements in personalized healthcare and shaping the future of genomic medicine in the U.S. market.

By Product

In the U.S. precision medicine market, segmentation into consumables, instruments, and services reveals consumables as the leading segment. Precision medicine strategies revolutionize healthcare by delving deeply into patients' genetic and genomic data, enabling accurate disease prediction and effective prevention, diagnosis, and treatment. This approach empowers physicians to select sensitive drugs, optimal dosages, and timing for medication usage, while minimizing adverse side effects. Consumables play a pivotal role in facilitating precision medicine implementation, providing the essential tools and materials required for genetic testing, sequencing, and analysis. As precision medicine continues to gain momentum, the consumables segment is poised to drive significant growth, enabling healthcare providers to deliver personalized and targeted therapies to patients, ultimately improving patient outcomes and revolutionizing the healthcare landscape.

By Route of Administration

In the U.S. precision medicine market, segmentation by route of administration reveals oral medication as the leading segment. Oral administration offers convenience, cost-effectiveness, and widespread acceptance among patients, making it the most commonly used medication administration route. Typically, the small intestine serves as the primary site of drug absorption, with medication bioavailability influenced by the rate and extent of absorption across the intestinal epithelium. This route of administration is particularly suitable for patients capable of ingesting and tolerating oral medication. Additionally, some medications with short half-lives are formulated as timed-release or sustained-release forms, allowing for gradual absorption over several hours. As precision medicine continues to advance, oral medication remains a cornerstone in delivering targeted therapies to patients, driving growth and innovation in the U.S. market.

By Drugs Insights

In the U.S. precision medicine market, segmentation by drug category includes Alectinib, Osimertinib, Mepolizumab, Aripiprazole Lauroxil, and others, with the Mepolizumab segment anticipated to experience significant growth. Mepolizumab, an anti-IL-5 monoclonal antibody developed for severe eosinophilic asthma treatment, exemplifies a clinical development program shaped by robust scientific principles. Initially, clinical data on mepolizumab's impact on lung function in a general asthmatic population were underwhelming. However, subsequent research revealed its effectiveness in reducing asthma exacerbations, particularly in patients with severe disease. Advancements in understanding asthma pathobiology further identified a target population and predictive biomarkers for mepolizumab. As precision medicine continues to evolve, mepolizumab's tailored approach to treating severe eosinophilic asthma positions it for substantial growth, offering promising outcomes for patients and driving innovation in the U.S. market.

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U.S. Precision Medicine Market Recent Developments

Related Report

U.S. Precision Medicine Market Top Key Companies:

U.S. Precision Medicine Market Report Segmentation

This report forecasts revenue growth at country levels and provides an analysis of the latest industry trends in each of the sub-segments from 2021 to 2033. For this study, Nova one advisor, Inc. has segmented the U.S. Precision Medicine market.

By Technology

By Application

By End-Use

By Sequencing Technology

By Product

By Route of Administration

By Drugs

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U.S. Precision Medicine Market Size to Hit USD 76.12 Billion by 2033 - BioSpace

Only have a minute? Listen instead

Former U.S. Rep. Mayra Flores wants mandatory DNA testing of all immigrants and favors a return of the much-denounced policy of separating children from their parents at the border.

The Donald Trump administration utilized both practices and likely would resume them if he is elected in November; Trump has said he plans to resurrect all of his previous immigration policies and impose new ones that would be more severe, including the largest domestic deportation operation in Americas history.

Flores, who is running to regain the congressional seat she lost in 2022, defends those policies, although family separation has roundly been denounced as inhumane. Some of the children were mere infants. Worse, many of those children have not been reunited with their parents half a decade later.

Until recently, our stated immigration policy was to keep families together. Federal law prohibits keeping immigrant children in detention for more than 20 days. The Trump administration bypassed that law by reclassifying separated children as unaccompanied minors in order to detain them indefinitely.

Obviously the law was violated in spirit and it doesnt seem to matter to Flores, who seeks to return to Congress to enact such laws. In fact, Republican lawmakers have filed legislation that would mandate genetic testing of immigrants. Our own Sen. Ted Cruz submitted the bill in that chamber.

I dont care if these children are with us for months, she said at a February gathering of the conservative youth group Turning Point USA in Brownsville.

Flores said longer child detentions might be necessary to allow time for the DNA testing, which she says is needed to verify that the children in fact are related to the people who brought them.

Genetic testing shouldnt be needed for such evaluations; it shouldnt be hard to see a difference in a childs comportment with a parent or guardian as opposed to a total stranger.

Its also obvious that any DNA testing that was done in the past didnt work. Thousands of families remain separated and might never be reunited; records of those tests and related detentions if kept at all were so shoddy that officials continue looking for detained childrens parents and cant find them.

Moreover, laboratories across the country that would perform such tests would have difficulty handling the burden not to mention the expense. Labs currently are so backlogged with forensic testing that criminal cases are being delayed while they wait for evidence.

Widespread testing during the Trump term was slowed down further because the demand for the tests outpaced the supply. Trump and his supporters constantly throw out the term family values in their campaigns. Shredding families, regardless of their nationality or legal status, obviously clashes.

Keeping migrant families together isnt just the right thing to do, it seems the most practical and efficient. Processing them together should speed up the process and ensure that they receive visas together if they qualify, or are deported together if they dont.

Republicans penchant for punitive measures increasingly is defying not only practicality, but morality.

Continued here:
Editorial: DNA testing of immigrants more trouble than it's worth, shouldn't even be necessary - MyRGV

MELBOURNE, Australia, May 29, 2024 (GLOBE NEWSWIRE) -- Genetic Technologies Limited (ASX: GTG; NASDAQ: GENE, Company, GTG), a global leader in genomics-based tests in health, wellness and serious disease,

is pleased to announce the Company has released its novel Comprehensive Risk Assessment test that covers 100% of women at risk of developing breast and ovarian cancer. The innovative test, available to all women above the age of 30, assesses a womans risk of cancer due to hereditary, including those with common gene mutations, and sporadic disease.

Launched at the inaugural Know Your Risk event in California, USA, the event provided invaluable insights of the role of genomics in womens health. Co-hosted by Dr Kristi Funk, known for her surgical treatment of celebrity Angelina Jolie, alongside CEO & Founder of Humanise Health, Krystal Barter, the event also featured panellists such as US based OB-GYN Dr. Carolynn Young, Andrea Hans, Allyn Rose Oertel, and Matthew Zachary.

This new geneType Comprehensive Risk Assessment test represents a significant leap in preventative healthcare, whereby clinicians will have a complete understanding of their patients risk profile of developing one of the deadly cancers. The addition of the germline component to GTGs platform provided the ability to screen 100% of women at risk. Retrospective data shows 5% to 10% of breast and ovarian cancers are caused by gene mutations and the remainder are due to sporadic condition.

This represents a massive market opportunity for geneType, with 1 in 8 chances of a woman in the US developing breast cancer equating to about 310,000 diagnosed cases annually. Although less prevalent, ovarian cancer accounts for 19,600 cases diagnosed yearly in the US and claims 12,700 deaths annually. Ovarian cancer is more deadly and is among the leading cause of cancer deaths in women. Dr Kirsti Funk noted that Understanding your cancer risk based on critical diet and lifestyle and genetic factors allows me to create a more directed, effective risk-reducing strategy.

This advancement in personalised preventative healthcare, was welcomed by the companys strategic partners in employer groups, functional medicine clinics and existing physician networks. The OB-GYNs are overwhelmingly excited about this launch and expressed their satisfactions on the abilities of our new comprehensive test for early diagnosis and ultimately saving lives.

GTGs CEO, Simon Morriss, said We are incredibly proud to have been part of this Know Your Risk event which underscored the importance of genetic testing and risk assessment in transforming womens health, inspiring attendees to advocate for their health and well-being proactively. We are also very fortunate and to have the opportunity to launch this unique risk assessment test in the presence of such a wonderful group of people.

Peter Rubinstein, GTGs Chairman commented, We are also excited to announce that in preparation for significant demand for this revolutionary test we have fully onboarded a high throughput automated laboratory in the United States with capacity to scale up to run 100,000 tests per month should future demand require. Every woman deserves the right to know her risk.

For more information, please visit http://www.genetype.com.

Authorised for release by the Board of Directors.

Enquiries Simon Morriss Chief Executive Officer E: investors@genetype.com

About Genetic Technologies Limited

Genetic Technologies Limited (ASX: GTG; Nasdaq: GENE) is a diversified molecular diagnostics company. A global leader in genomics-based tests in health, wellness and serious disease through its geneType and EasyDNA brands. GTG offers cancer predictive testing and assessment tools to help physicians to improve health outcomes for people around the world. The company has a proprietary risk stratification platform that has been developed over the past decade and integrates clinical and genetic risk to deliver actionable outcomes to physicians and individuals. Leading the world in risk prediction in oncology, cardiovascular and metabolic diseases, Genetic Technologies continues to develop risk assessment products. For more information, please visit http://www.genetype.com

Forward-Looking Statements

This announcement may contain forward-looking statements about the Companys expectations, beliefs or intentions regarding, among other things, statements regarding the expected use of proceeds. In addition, from time to time, the Company or its representatives have made or may make forward-looking statements, orally or in writing. Forward-looking statements can be identified by the use of forward-looking words such as believe, expect, intend, plan, may, should or anticipate or their negatives or other variations of these words or other comparable words or by the fact that these statements do not relate strictly to historical or current matters. These forward-looking statements may be included in, but are not limited to, various filings made by the Company with the U.S. Securities and Exchange Commission, press releases or oral statements made by or with the approval of one of the Companys authorized executive officers. Forward-looking statements relate to anticipated or expected events, activities, trends or results as of the date they are made. As forward-looking statements relate to matters that have not yet occurred, these statements are inherently subject to risks and uncertainties that could cause the Companys actual results to differ materially from any future results expressed or implied by the forward-looking statements. Many factors could cause the Companys actual activities or results to differ materially from the activities and results anticipated in such forward-looking statements as detailed in the Companys filings with the Securities and Exchange Commission and in its periodic filings with the ASX in Australia and the risks and risk factors included therein. In addition, the Company operates in an industry sector where securities values are highly volatile and may be influenced by economic and other factors beyond its control. The Company does not undertake any obligation to publicly update these forward-looking statements, whether as a result of new information, future events or otherwise, except as required by law.

_____________________________ https://www.cancer.org/cancer/types/ovarian-cancer/about/key-statistics.html https://www.instagram.com/p/C7XX-sKygdG/?utm_source=ig_web_copy_link

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GTG Launches Revolutionary geneType Test covering 100% Risk of Breast and Ovarian Cancer - GlobeNewswire

There is a lot of beauty to aging as well as some complications, with Alzheimer's disease being a complicated condition that affects millions worldwide and older generations in particular. With about five million Americans grappling with Alzheimer's disease, its prevalence appears to be steadily climbing. It is projected to soar to eight figures in the future, potentially impacting over 13 million people by 2050. This taxing disease takes a toll on those who get it and their families, which has researchers and everyday people eager to find solutions. Without an existing cure for Alzheimer's disease, preventative measures have become the focus.

With questions arising surrounding the disease's genetic implications, people can turn to Alzheimer's genetic testing, although there is debate surrounding the pros and cons. Planning for the future, contributing to research efforts, mitigating personal risk factors, and finding solace in negative results are among the arguments in favor of testing. However, a cautious approach is also necessary, considering the multifaceted implications of genetic revelations and their potential to be inaccurate in determining if Alzheimer's is in one's future.

Genetics undeniably shapes Alzheimer's risk, yet the clarity genetic testing offers remains elusive for many. The apolipoprotein E gene, particularly the APOE e4 variant, is a significant genetic risk factor. Still, its presence doesn't guarantee Alzheimer's onset, complicating counseling for those tested. Moreover, while rare genetic mutations directly cause Alzheimer's, they're predominantly observed in familial early-onset cases, leaving more ambiguity for the broader population. Lifestyle factors also intertwine with genetic predispositions, which influence Alzheimer's susceptibility. Conditions like obesity, hypertension, and diabetes, coupled with specific gene mutations, elevate the risk across varied demographics.

While other medical conditions have made substantial strides in discovering cures, breakthroughs in Alzheimer's treatment have not been as evident. For over a decade, there's been an absence of new drugs that bring promising results, shedding light on the challenges researchers face in curing Alzheimer's once and for all. More positive developments include the recent progress in using brain and spinal fluid proteins to predict Alzheimer's progression. This advancement offers some promise for future intervention.

Despite these advancements, an added dose of anxiety often accompanies genetic testing, given its uncertainty. Alzheimer's disease is not a fast-acting condition, as the progressive form of dementia is known to manifest gradually. Even with impaired memory, cognition, and behavior, a definitive diagnosis is still only cemented during postmortem brain examinations, despite visible symptoms while the afflicted is alive. When symptoms of Alzheimer's disease start to become evident, varied tests aid in assessing cognitive functionand ruling out alternative diagnoses to guide treatment decisions.

Alzheimer's disease includes several stages, and navigating each stage of the disease demands comprehensive caregiving strategies that acknowledge the diverse challenges each phase presents. While a cure is not yet available, many resources exist to equip families and caretakers to offer tailored support and quality of life to those with Alzheimer's disease. The daunting possibility of Alzheimer's disease, from the mild cognitive impairment stage to the final stage of advanced dementia, can draw people to seek answers through genetic testing. Researchers continue to seek answers as lifestyle modifications and healthy living habits currently stand as effective ways to combat cognitive decline.

Disclaimer: The San Francisco Weekly newsroom and editorial were not involved in the creation of this content.

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Genetic Testing for Alzheimer's: Navigating Risks and Prevention Strategies - SF Weekly

Study findings to be presented at the 2024 ASCO Annual Meeting find hereditary risk for gastric and lung cancers, among others, underscoring the need for broader genetic testing

SAN FRANCISCO, May 23, 2024 /PRNewswire/ -- Invitae (OTC:NVTAQ), a leading medical genetics company, today announced eight studies to be presented at the 2024 American Society of Clinical Oncology (ASCO) Annual Meeting held in Chicago from May 31-June 4, 2024. The clinical data being presented demonstrate the importance of genetic testing for patients with various different types of cancers, including breast, gastric, prostate and lung, to better inform management and treatment decisions.

Genetic testing guidelines need to be inclusive of more cancer types, with new data finding gastric, lung and prostate cancer patients with inherited genes linked to increased cancer risk

Gastric cancer is the fourth leading cause of cancer-related deaths worldwide, and the role of pathogenic (disease causing) variants in cancer predisposition genes is not well understood for this disease. One study looked at genetic testing results in 3,706 gastric cancer patients the largest study of its kind to better understand the prevalence of disease causing variants in cancer associated genes. The results found the percentage of patients with disease causing variants to be 13.4%, about 1 in 8 patients. This shows the value of genetic testing in all gastric cancer patients, as the prevalence of pathogenic variants is similar to other cancer types for which guidelines recommend universal genetic testing.

"Current guidelines haven't met the needs for patients across cancer types, gastric cancer included," said Dr. Ophir Gilad, University of Chicago and a co-author of this study. "The prevalence of actionable gene variants found in this study of gastric cancer patients is on par with other cancer types for which guidelines recommend universal genetic testing. We're increasingly seeing evidence for germline genetic testing to help guide treatment plans and familial testing for various cancer types."

Additionally, in a study of 14,317 patients with lung cancer, 12.6% had pathogenic germline variants -- regardless of smoking history. The study results suggest these inherited genes are not only independently associated with lung cancer, but also additive to smoking risk for lung cancer. These data reinforce prior studies supporting consideration of germline genetic testing for all patients with lung cancer, independent of age or reported smoking history.

Genetic testing is similarly underutilized for prostate cancer. In a large study of 15,000 prostate cancer patients that received genetic testing, results showed that of the patients with genetic variants that increase risk of prostate cancer, 3 in 4 patients had no reported family history of prostate cancer and more than 1 in 3 patients had no reported family history of any cancer. The findings underscore the importance of genetic testing for all prostate cancer patients, regardless of age, stage or family history.

Breast cancer data in Rwanda demonstrates need for more genetic testing in underrepresented populations

Despite the observation that cancers are often diagnosed at young ages and take an aggressive course in Sub-Saharan Africa (SSA), genetic data that could inform treatment are limited for this population group.

In a recent study, patients undergoing cancer treatment in hospitals in Rwanda for female breast, male breast and prostate cancer underwent multigene panel testing (Invitae), and the results found a large proportion of the patients had inherited pathogenic variants that could help inform their treatment (18.3% of female breast cancer, 16.7% of male breast cancer, and 4.3% of prostate cancer patients). The findings suggest that genetic testing should be more routinely implemented into cancer care and prevention strategies in this population.

Underrepresented race, ethnicity, and ancestry (REA) groups face these challenges across geographies. In another recent study being presented at ASCO that included more than one million people over an eight-year period who underwent genetic testing for hereditary cancer syndromes, it was found that underrepresented REA groups are disproportionately impacted by variants of uncertain significance (VUS) in genetic testing, which are uncertain results that are not clinically actionable. With more representation of these groups in clinical studies, there will be more data that could uncover life-saving discoveries. Clinical evidence was the most significant source of information leading to VUS resolution, underscoring the importance of the clinician-lab partnership and communication.

"Germline genetic testing should be the standard of cancer care across many types of cancers. In underrepresented populations, this is especially crucial as more information needs to be collected to better inform care and improve population health overall," said Dr. Michael Korn, chief medical officer at Invitae. "Each year, ASCO presents us with an opportunity to share compelling research to help propel cancer treatment forward, and we're proud of the clinical insights our tests are able to provide across cancer types."

Study offers reassurance that variants of uncertain significance in genetic testing results among patients with breast cancer do not lead to overuse of treatment or surveillance interventions, such as mastectomies

It's common for patients with breast cancer undergoing germline genetic testing to have uncertain results, but it's previously been unclear if these results impact clinical management. However, a recent study being presented at ASCO presents new evidence indicating that variants of uncertain significance (VUS) identified through germline genetic testing do not result in guideline-discordant management in real-world settings. Specifically, patients with breast cancer and VUS results demonstrated similar rates of treatment, prevention and surveillance interventions compared to those with negative results. This offers reassurance that VUS results do not lead to overuse of mastectomies or other interventions for patients with breast cancer.

2024 ASCO presentations and posters:

About InvitaeInvitae (OTC: NVTAQ) is a leading medical genetics company trusted by millions of patients and their providers to deliver timely genetic information using digital technology. We aim to provide accurate and actionable answers to strengthen medical decision-making for individuals and their families. Invitae's genetics experts apply a rigorous approach to data and research, serving as the foundation of their mission to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people.

To learn more, visit invitae.comand follow for updates on LinkedIn, X, Instagram, and Facebook@Invitae.

Safe Harbor StatementThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the company's beliefs regarding its new research; the company's belief that its new research demonstrates the importance of genetic testing for many cancers not currently covered by clinical guidelines; the company's belief that its new research demonstrates the need for more research in underrepresented populations; and the company's belief that its research helps move cancer treatment forward.. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: the applicability of clinical results to actual outcomes; the company's ability to use rapidly changing genetic data to interpret test results accurately and consistently; risks and uncertainties regarding the company's ability to successfully consummate and complete a plan under chapter 11 or any strategic or financial alternative as well as the company's ability to implement and realize any anticipated benefits associated with its sale of assets to Labcorp and the any alternative that may be pursued, including the asset sales and wind down of operations; the company's public securities' potential liquidity and trading; and any impact resulting from the delisting of the company's common stock from the New York Stock Exchange and trading instead on the OTC Pink Marketplace; and the other risks set forth in the company's filings with the Securities and Exchange Commission, including the risks set forth in the company's Quarterly Report on Form 10-Q for the quarter ended September 30, 2023. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Invitae PR contact: Renee Kelley [emailprotected]

SOURCE Invitae Corporation

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New Research Demonstrates the Importance of Genetic Testing for Many Cancers Not Currently Covered by Clinical ... - PR Newswire

Harnessing the power of artificial intelligence (AI), CHEO researchers have developed a groundbreaking search algorithm that identifies children and youth who may have an undiagnosed rare genetic disease and refers them for genetic testing putting an end to their diagnostic odyssey.

The ThinkRare algorithm is incredibly exciting and promising because it means we can help families find answers and get the care and support they need sooner, said Dr. Kym Boycott, Senior Scientist at the CHEO Research Institute and Chief of Genetics at CHEO. This algorithm is a game changer. Using AI to scour CHEOs electronic health record based on set criteria, ThinkRare can accurately identify kids who may have an undiagnosed rare genetic disease and refer them to our clinic something that may have never happened without it.

Ten-year-old Antony Wistaff and hisfamily have spentcountlesshours at CHEO, callingit a second home. Antony wasbornprematurely in October 2013 and a few dayslaterunderwent emergency surgery at CHEO to place a shunt for hydrocephalus. But thatwasonly the beginning of whatwouldbecome a decade-long diagnostic journeyconsisting of more than 100 outpatientappointmentsacross six differentspecialtyclinics at CHEO, and 30 trips to the emergency department for variousreasons.

That was until recently, when the ThinkRare algorithm identified Antony as potentially having an undiagnosed rare genetic disease and flagged him for a referral to receive genome-wide sequencing testing a test that simultaneously analyzes the more than 5,000 genes that have been associated with rare disease and is now available clinically in Ontario.

The results of the genetictestingdiscoveredthat Antony has Chung-Jansen Syndrome a rare disorderresultingfrom a pathogenic variant in the PHIP gene. At present, the syndrome has been diagnosed in only about 400 people worldwide and itexplainedmany of Antonyshealth and behavioural challenges, includinghisdevelopmentaldelays, learningdifficulties, and large head size.

When we found out that Antony was diagnosed with Chung-Jansen Syndrome, it answered so many questions for our family, said Georges Wistaff, Antonys dad. This research brought a kind of peace to our house. Hadweknownthissooner, itwould have meantlessquestioning as parents, less stress, and more support becausewewould have had a cleardiagnosis for Antony. A little bit of blood and a simple test, answeredsomany questions.

To date, Think Rare, whichiscurrently operating as a researchprojectapproved by the CHEO ResearchEthicsBoard, isthree for three meaning the first three patients identified by ThinkRare and referred to genetics have received test results and been diagnosedwith a rare disease. Genetictestingisunderway for manyotherfamiliesidentified by ThinkRare.

Our goal is to flip the diagnostic care journey on itshead and start withgenetictestingearlier on the care pathway. By incorporating the ThinkRarealgorithmintoclinical care, wewillbe able to support CHEO clinicians and frontlineworkerswith the power of machine learning to find the needle in the haystack, added Dr. Boycott, whois a Tier 1 Canada Research Chair in Rare DiseasePrecisionHealth and Professor of Pediatrics at the University of Ottawa.

Work iscurrentlyunderway at CHEO to transition the ThinkRareprojectfrom researchintoclinical practice, with all the necessary patient privacymechanisms in place.

CHEO isuniquelypositioned to develop an impactfulalgorithmsuch as ThinkRarebecause of CHEOsinvestment in a robustelectronichealth record system, ourcommitment to innovation, our close collaboration betweenclinical and researchteams, and becausewe are the only pediatric healthcare centre in Eastern Ontario serving a widegeographic area. At CHEO, we have broughttogether all the necessaryelementswhenitcomes to making AI advancements in healthcare, said Dr. Jason Berman, CEO and Scientific Director, CHEO Research Institute, and Vice-PresidentResearch, CHEO.

The ThinkRareprojectwas made possible withfundingfrom the CHEO Foundation, the CHAMO Innovation Fund, and Ontario Genomics.

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Media contact:

Jennifer Ruff Director of Communications CHEO Research Institute (613) 261-3979 jruff@cheo.on.ca

About the CHEO Research Institute

The CHEO Research Institute is a global centre of excellence in pediatric research that connects talent and technology in pursuit of life-changing research for every child, youth and family in the CHEO community and beyond. The CHEO Research Institute coordinates the researchactivities of CHEO and isaffiliatedwith the University of Ottawa. At the CHEO Research Institute, discoveries inspire the best life for everychild and youth. For more information, visitcheoresearch.ca.

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World-first AI algorithm developed at CHEO leads to rare disease diagnosis for families - CHEO