Archive for the ‘Genetic Testing’ Category

Genetic testing has become a hot topic with patients, families, health care providers and many others within the inherited retinal disease (IRD) community. Eye Want 2 Know brought to you by Spark Therapeutics, is pleased to bring you a special educational evening featuring genetic testing stories and experiences as told from the patient, advocate and health care professional perspectives.

Join the IRD community at this limited-seating event on World Sight Day, October 10 in San Francisco to hear first-hand genetic testing accounts, including:

Danelle Umstead, blind Paralympian and former Dancing with the Stars contestant

Elias Traboulsi, MD, M.Ed., Head of the Department of Pediatric Ophthalmology, Director of the Center for Genetic Eye Diseases at Cleveland Clinic's Cole Eye Institute

Chris Moen, MD, Chief Medical Officer of the Choroideremia Research Foundation

Meghan DeBenedictis, MS, LGC, M.Ed., Licensed, Certified Genetic Counselor and Coordinator at Cleveland Clinic's Cole Eye Institute

WHEN: Thursday, October 10, 5:00PM-7:00PM

WHERE: Town Hall at Galvanize, San Francisco

Genetic testing has become a hot topic with patients, families, health care providers and many others within the inherited retinal disease (IRD) community. Eye Want 2 Know brought to you by Spark Therapeutics, is pleased to bring you a special educational evening featuring genetic testing stories and experiences as told from the patient, advocate and health care professional perspectives.

Join the IRD community at this limited-seating event on World Sight Day, October 10 in San Francisco to hear first-hand genetic testing accounts, including:

Danelle Umstead, blind Paralympian and former Dancing with the Stars contestant

Elias Traboulsi, MD, M.Ed., Head of the Department of Pediatric Ophthalmology, Director of the Center for Genetic Eye Diseases at Cleveland Clinic's Cole Eye Institute

Chris Moen, MD, Chief Medical Officer of the Choroideremia Research Foundation

Meghan DeBenedictis, MS, LGC, M.Ed., Licensed, Certified Genetic Counselor and Coordinator at Cleveland Clinic's Cole Eye Institute

WHEN: Thursday, October 10, 5:00PM-7:00PM

WHERE: Town Hall at Galvanize, San Francisco

Read more here:
Beyond the Science: Perspectives on Genetic Testing for IRDs - NBC Bay Area

New guidelines for genetic testing should help more women and their relatives take steps to improve their odds against cancer that might run in the family.

All women who have had cancer of the breast, ovary, Fallopian tubes or peritoneum tissue in the walls of the abdomen should be offered a screening tool to determine their risk of mutation, new U.S. Preventive Services Task Force guidelines say.

The new recommendation removes a wording that limited testing to those diagnosed at younger ages.

Thats a pretty big thing, genetic counselor Kimberly Knapp said at Joyce Murtha Breast Care Center in Windber.

In the past, screening for breast cancer susceptibility genes BRCA1 and BRCA2 was recommended for women who developed breast or ovarian cancer before age 50 and others who had certain types of cancer before age 60.

Now, we dont have to age discriminate, Knapp said.

Anyone with a significant family history of breast or ovarian cancer should also consider genetic screening, which begins with a thorough review of family cancer history with a trained counselor, Knapp said.

Those women can contact breast cancer programs at several of the regions hospitals to find out more about their risk.

Genetic counselors will be able to help determine if they are eligible for genetic testing for the BRCA1 or BRCA2 gene mutations.

BRCA is shorthand for breast cancer, but the mutations are also associated with an increased risk of other cancers.

Genetic testing at Joyce Murtha Breast Care Center at Chan Soon-Shiong Medical Center at Windber tests for the BRCA gene, Knapp said.

Because researchers continually find more genetic links, Windber offers a genetic screening for a panel of almost 50 different mutations.

The new guidelines expand the pool of patients who are eligible for insurance coverage of the test, she said.

At Indiana Regional Medical Center, breast surgeon and genetic counselor Dr. Dan Clark works with families to screen for 24 gene mutations.

Screening is not just a yes or no. You get a report with four pages of results, he said at the hospital.

The report may recommend additional screenings for hereditary cancers, including breast, ovarian and colon cancer.

We know there are a lot of other cancers associated with genetics, he said.

But most cancer is not hereditary, he warned.

The American Cancer Society estimates between 5 percent and 10 percent of all cancers come from gene mutations passed on through families.

Clark fears heightened attention on genetic risk may cause women with breast cancer in their families to think they are not at risk, noting most breast cancer patients have no family history of the disease.

Link:
Genetic testing expanded to help those with disease in their families - Oskaloosa Herald

Von Willebrand disease (VWD) is the most common hereditary bleeding disorder but one of the most difficult to diagnose, especially type 1 VWD. Recurrent challenges include the need to complete several assays of von Willebrand factor (VWF) activity and lack of consensus surrounding the acceptable standard for diagnosis. Consequently, improving current diagnostic techniques, as well as implementing new methods, is essential to ensure patients are provided optimal care.

In a review article published in Current Opinion in Hematology, Veronica H Flood, MD, of the department of pediatrics at the Medical College of Wisconsin in Milwaukee, and colleagues summarized the current literature surrounding the diagnosis of type 1 VWD. They also reviewed new advances in genetic testing for VWF, which could serve as a potential alternative to conventional laboratory methods.

Overview of Genetic Dysfunction

In contrast to type 2 VWD, type 1 VWD may include genetic defects in the coding region of the VWF gene. These mutations vary from insertions and deletions to point mutations that produce missense or nonsense mutations. With conventional sequencing methods, insertions and deletions can be missed, which has historically precluded the clinical use of genetic-based diagnostic techniques. These limitations are not typically seen in type 2 VWD as genetic defects are usually present in the DNA region specific to the impacted functional region.

Because of the high degree of polymorphism seen in the VWF gene, entire genome or exome sequencing may be required for diagnosis; in other instances, the VWF gene may be analyzed directly if a particular coagulation defect is suspected. In type 1 VWD, certain high frequency variants have been linked to disease etiology, but recent data have highlighted the potential role of novel variants in type 1 VWD. The high degree of variability seen in the VWF gene is certainly a key contributor to the disease phenotype, but not all defects will ultimately lead to VWD.

Modifier Genes and Diagnosis

In addition to defects in VWF, several genes independent of the VWF locus have been shown to affect VWF levels. The most described modifier gene is ABO, though others such as CLEC4M, STAB2, and STXBP5 also exist. Blood group O levels of less than 50 IU/dL are routinely used to establish a diagnosis of VWD, but some individuals with blood type O also meet this criteria despite being healthy. Some experts have proposed that low VWF may be more suitably described as a risk factor for bleeding instead of as the basis for bleeding.

Read more:
Advances in the Diagnosis of Type 1 von Willebrand Disease: Genetic Testing - Hematology Advisor

TORONTO , Oct. 7, 2019 /CNW/ - TruTrace Technologies Inc. (CSE: TTT) (OTCQB: TTTSF) ("TruTrace"), creator of the first fully-integrated blockchain platform that registers and tracks intellectual property for the cannabis industry, and Sigma Analytical Services ("Sigma Analytical"), a provider of comprehensive testing and analytical services for the cannabis industry, today announced that the two companies have entered into a letter of intent ("LOI") to establish a strategic working relationship.

TruTrace Technologies Inc. (CNW Group/TruTrace Technologies Inc.)

Pursuant to the LOI, TruTrace plans to include Sigma Analytical as a genetics verification and testing partner in its blockchain-secured traceability ecosystem, and the parties will explore development and integration opportunities to rapidly expedite and optimize testing processes in the cannabis and hemp industries.

Sigma Analytical is also expected to participate in the TruTrace Technologies and Shoppers Drug Mart medical cannabis verification pilot program (the "Pilot Program") as a testing partner. The Pilot Program, which is designed to increase transparency, interoperability and product identification within the medical cannabis industry, uses TruTrace's StrainSecure technology as a central hub for identity management, asset tracking, validation, and product authentication.

"Sigma has been advancing the understanding of cannabis chemistry and has established a global scientific network of pioneers to facilitate standardizing testing and quality assurance in this new and promising field of science," said Ashton Abrahams , Chief Operating Officer of Sigma Analytical. "Working with TruTrace and Shoppers Drug Mart to track and trace the process and products will have significant synergy with what Sigma is doing and will be valuable to the fast-growing cannabis industry."

"We are pleased to add Sigma Analytical as a partner in our StrainSecure ecosystem," said TruTrace Technologies CEO Robert Galarza . "The Sigma team has established a track record of innovation in the cannabis industry and we look forward to collaborating with them as we continue to build out our platform and processes."

As a full-service testing and research GMP-compliant laboratory, Sigma Analytical offers comprehensive testing and analytical services, as well as R&D, and consulting in cannabis, hemp and derived products across North and South America . Equipped with the most advanced analytical instruments and validated SOPs, Sigma possesses a tremendous amount of acquired know-how and expertise in the areas of cannabis and hemp sample preparation, processing, digestion, method development, and analysis.

Under the StrainSecure program, the TruTrace team collects plant testing data and performs genomic verification in plant batches which are then registered in a blockchain-enabled database for intellectual property protection and strain validation. All information gathered from the plants, including their molecular and chemical makeup, can be tracked via the program.

About TruTrace Technologies:

TruTrace Technologies has developed the first integrated blockchain platform to register and track intellectual property in the cannabis industry. TruTrace's technology allows cannabis growers and breeders to identify and secure rights to their intellectual property. It also streamlines the administrative process and reduces the costs of genetic and mandatory quality-control testing for legal cannabis. TruTrace's technology is proprietary, immutable and cryptographically secure, thereby establishing an accurate and permanent account for cannabis strains from ownership to market.

Story continues

About Sigma Analytical Services

Sigma Analytical Services, headquartered in Toronto, Canada , is a unique full-service testing and research GMP-compliant laboratory offering comprehensive testing and analytical services, R&D, and consulting in cannabis and derived products along with consulting and high-level training for set-up and operation of cannabis quality assurance/quality control (QA/QC) and R&D labs. Sigma Analytical maintains a global presence with projects and laboratories spanning North and South America , as well as several strategic partnerships with major analytical instrument providers, testing labs, producers, service providers, and universities across Canada , South America , United States , Europe and Australia . Sigma Analytical has emerged as a thought leader in advancing the understanding of cannabis chemistry and is establishing a global scientific network of pioneers to facilitate research and knowledge sharing in this new and promising field of science.

For more information about the company please contact us at +1 888 406 0016 or visit sigmaanalytical.com.

Disclaimer for Forward-Looking Information

This news release includes forward-looking information within the meaning of Canadian securities legislation, including statements regarding: TruTrace's plans to include Sigma Analytical as a genetics verification and testing partner in its blockchain-secured traceability ecosystem, and that the parties will explore development and integration opportunities to rapidly expedite and optimize testing processes in the cannabis and hemp industries; Sigma Analytical's expected participation in the Pilot Program as a testing partner; and that Sigma Analytical working with TruTrace and Shoppers Drug Mart to track and trace the process and products will have significant synergy with Sigma Analytical's operations and will be valuable to the fast-growing cannabis industry. Although the Company believes that the expectations and assumptions on which such forward-looking information is based are reasonable, undue reliance should not be placed on the forward-looking information because the Company can give no assurance that it will prove to be correct and actual results and future events could differ materially from those anticipated in such information. Forward-looking information necessarily involves known and unknown risks, including, without limitation, risks associated with: the ability of the parties to rapidly expedite and optimize testing processes in the cannabis and hemp industries; the Pilot Program, including its intended scope, characteristics, and perceived benefits; the ability of TruTrace Technologies' platform to increase transparency, interoperability and product identification within the medical cannabis industry; general economic conditions; adverse industry events; loss of markets; future legislative and regulatory developments in Canada , the United States , and elsewhere; inability to access sufficient capital from internal and external sources, and/or inability to access sufficient capital on favourable terms; and other risks beyond the Company's control. Events or circumstances may cause actual results to differ materially from those predicted, as a result of numerous known and unknown risks, uncertainties and other factors, many of which are beyond the control of the Company. Readers are cautioned not to place undue reliance on any forward-looking information contained in this news release. Forward-looking information contained in this news release is provided as of the date of this news release. The Company disclaims any intent or obligation to update publicly any forward-looking information, whether as a result of new information, future events or results or otherwise, other than as required by applicable securities laws.

Sigma Analytical Services (CNW Group/TruTrace Technologies Inc.)

SOURCE TruTrace Technologies Inc.

View original content to download multimedia: http://www.newswire.ca/en/releases/archive/October2019/07/c3486.html

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TruTrace Technologies and Sigma Analytical to Collaborate on Genetic Testing for Cannabis - Yahoo Finance

Humans have been selectively breeding animals for thousands of years: cows that produce more milk, pigs that grow to larger sizes, sheep that have thicker wool. Genetic testing, which has become faster and more accessible, has made this process even easier.

So why not do the same with oysters?

Oyster hatcheries already try to breed animals with characteristics that make them more marketable, like meatier bodies or specific shell shapes. But the briney bivalves currently face threats from warming oceans and several parasitic diseases. The traits that could help them survive are harder to spot.

Now, a group of shellfish geneticists is trying to help the oyster industry select for the traits that will make oysters both thrive in their environment and melt in your mouth.

Theres a lot of room for improvement to breed a better oyster, says Katie Lotterhos, an assistant professor of marine and environmental sciences at Northeastern. Were bringing in new expertise and new tools into the industry that will help increase productivity.

Lotterhos is part of the Eastern Oyster Breeding Consortium, a group of researchers from 12 institutions, which recently received a grant from the Atlantic States Marine Fisheries Commission to develop new tools to help oyster hatcheries choose the right oysters to breed.

The group is specifically focused on the eastern oyster, Crassostrea virginica, which ranges from the Atlantic coast of Canada to the Gulf of Mexico. While these animals are all the same species, they have different adaptations depending on the region where they are found, Lotterhos says. Animals in the south may be better able to handle warm water, while those growing near the mouths of rivers might be adapted to water with less salt in it.

So instead of just thinking about one trait, like disease, were trying to breed for multiple traits, Lotterhos says.

Oysters are what scientists call broadcast spawners, which means that when the timing is right, they eject eggs and sperm into the water around them and leave the rest to chance. This doesnt make it easy for growers, whose farms are typically located in coastal areas open to the ocean, to ensure that the right oysters are reproducing, or even staying on the farm.

Instead, most growers purchase seed (baby oysters about the size of your fingernail) from hatcheries, where oysters are encouraged to spawn in a more controlled environment. With the help of genetic analysis, hatcheries could provide oyster seed that is specifically tailored to particular regions and resistant to certain diseases, ensuring that more of the oysters survive to adulthood.

In individuals of the same species, the vast majority of their genetic code is identical. But scattered throughout that code are occasional variations called single nucleotide polymorphisms (which researchers write as SNPs and pronounce as snips).

Members of the consortium previously sequenced the entire genomes of eastern oysters growing as far south as Louisiana and as far north as Maine. Lotterhos and her colleagues will be analyzing these sequences to figure out which variations are tied to important oyster traits.

They will be compiling the small segments of DNA that contain those variations on a tool called a SNP chip (snip chip). Oyster hatcheries will be able to use the SNP chip to determine which of their oysters have these same desirable traits.

Once you know which genetic markers contribute to certain traits, like disease resistance, you can use individuals that have those markers in the breeding process, Lotterhos says.

The hope is to breed a better oyster able to cope with changing ocean conditions and also appeal to restaurants and other customers. The slimy, salty experience of eating a raw oyster may not be for everyone (Lotterhos admits theyre not her favorite food), but for the bivalve buff in your life, this research could provide a ray of hope on the half shell.

For media inquiries, please contact media@northeastern.edu.

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How to breed a better oyster - News@Northeastern

FAIRMONT, W.Va. The DNA service 23andMe is known for checking your ancestry, but a woman from Fairmont recently found out she had Celiacs Disease through their health test.

23andMes genetic test requires the customer to spit into a tube, which is then sent to their laboratory, where they can test genetics for health predispositions, ancestry, wellness, carrier status and traits. The service outlines the results on their mobile app.

I originally got it because theres a lot of diabetes on one side of my family. Both my grandmothers had mastectomies due to breast cancer and my mom had the aggressive form of ovarian cancer, said Carolyn Mayes, The thing that stuck out to me the most is that I have a higher risk of Celiac disease. Ive never heard of that and neither did my husband.

Celiac disease is an autoimmune disease where eating gluten leads to damage in the small intestine. Mayes said when she started reading the symptoms, it started to make sense.

I always had migraines that never went away and my dad said, Why dont you do Tylenol? I said, Tylenol doesnt work for me,' Mayes explained. I always try to donate blood and each time I can never do it because my iron was always low. I asked my doctor, Can you test me for Celiac disease? And I came back with my test results and I was positive for Celiac disease.

Since then, Mayes eats a strict gluten-free diet.

And I can tell with certain things, like I started getting nauseated really quickly. I dont feel good. And I just automatically can tell, and now I get bloated, said Mayes, I have to be aware of certain medications now. Even vitamins, all my medications have to say certified gluten free.

Those who use 23andMe can test their likelihood of many diseases, including Alzheimers, Parkinsons and certain types of cancer. The company can list genetic health risks and if you are a carrier for certain conditions. However, 23andMe does not diagnose any health conditions.

Any time a customer receives a variant detected result, its important for them to partner with their healthcare provider and get that confirmed in a clinical setting, said Altovise Ewing, medical liaison for 23andMe.

Because Celiacs Disease is a hereditary condition, Mayes said she knows what health conditions to look for in her children, and now she wants her husband to get tested, too. She said her daughter is already showing symptoms of a gluten intolerance.

I know like most people are kind of wary about like genetic testing done, but I feel like its really important to know what your genetics are because I wouldnt have even known I had Celiac disease and I ate bread. All my friends have said, Carolyn youre eating sandwiches every single day. I was like, I love bread, said Mayes. I wouldve never known I have Celiac disease, and I would continue [to eat gluten], and I know Celiac untreated lifelong can give you intestinal cancer or colon cancer and it can do a lot of damage within your body. So I was really glad I did 23andMe.

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Marion County woman finds out she has Celiac disease through ancestry test - WBOY.com

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Every year, many seniors are targeted by scammers who want to steal their Medicare numbers to do things like rack up fake health care charges and commit identity theft. These scams hurt seniors and other people eligible for Medicare, cost taxpayers money and result in higher health care costs for everyone. The good news is that you can protect yourself from fraud and help Medicare stop scammers in their tracks.

The first step in protecting yourself from Medicare fraud is knowing how to spot it. Over time, scammers have become very sophisticated. One of the latest scams you should look out for concerns genetic testing. Scammers are offering free genetic tests and claiming Medicare will cover it, so they can get your Medicare number and use it to commit fraud and identity theft. Other Medicare scams include offers for free or reduced-price medical equipment, consultations or health services. These scams can happen anywhere, including through telemarketing calls, health fairs and even knocking on doors.

Last year, the Centers for Medicare & Medicaid Services (CMS) removed Social Security numbers from all Medicare cards. Even with this change, people with Medicare should still guard their Medicare card and treat it like a credit card, check Medicare claims summary forms for errors, and be wary of any unsolicited requests for your Medicare number. Medicare will never call beneficiaries to ask for or check Medicare numbers.

DO protect your Medicare number and treat your Medicare card like its a credit card.

DO remember that nothing is ever free. Dont accept offers of money or gifts for free medical care.

DO review your Medicare claims for errors and problems, including things like fake charges, double billing or other fraudulent activity, waste or abuse.

DO visit medicare.gov/fraud to learn more about how you can protect yourself from Medicare fraud.

DONT give your Medicare card or Medicare number to anyone except your doctor or people you know should have it.

DONT accept medical supplies, equipment or genetic testing kits from door-to-door salesmen or solicitors at a mall or fair.

DONT let anyone persuade you to receive health care services you dont need, such as genetic testing. Only make these decisions with your doctor.

If you think you may have spotted fraud, you should report it right away. No matter how minimal the information you share is, it could be the missing piece to stopping the next fraud scheme. If you are a victim of fraud, know you wont be penalized or lose your coverage for reporting it. Even if you are not a victim, its important to report any fraud scams you encounter to Medicare. Report suspected fraud by calling 1-800-MEDICARE which is: 1 (800) 633-4227, or online through the Office of the Inspector General.

More:
Community: Protecting Yourself from Medicare Fraud (10/7/19) - Southeast Missourian

Share on PinterestConducting multigene testing on breast cancer patients when they are diagnosed is cost effective and could potentially save the lives of thousands. Getty Images

Conducting multigene testing on breast cancer patients when they are diagnosed is cost effective and could potentially save the lives of thousands, according to a new study.

But many patients are not offered the testing based on existing criteria, which means people carrying cancer genes are not given the opportunity to find out if they are carriers.

Multigene testing includes an evaluation for the BRCA1, BRCA2 and PALB2 genes. The genes have been linked to inherited cases of cancer. Mutations to the genes can put men and women at a higher risk of breast cancers as well as other cancers.

Currently, testing is restricted based on a patients family history or clinical criteria. The American Society of Breast Surgeons already recommends genetic testing for all patients. The National Comprehensive Cancer Network (NCCN) criteria does not.

Dr. Ranjit Manchanda, a lead researcher and professor at Queen Mary University of London, said that about 50 percent of BRCA carriers do not meet the existing criteria to qualify for genetic testing. As a result, about half of them are at risk but dont know it. Additionally, only 20 to 30 percent of patients who meet the criteria are referred for and access BRCA testing, he added.

The study examining cost-effectiveness of testing was tested on U.S. and U.K models. The testing would be cost effective in between 98 and 99 percent of simulations in the U.K. health system and 64 to 68 percent in the U.S. health system. JAMA Oncology published the report, which included data from about 11,800 women in the United States, United Kingdom, and Australia.

We feel that all breast cancer patients should be offered the option of multigene testing, Manchanda told Healthline. This approach will save many more lives and prevent many more breast and ovarian cancers than the current clinical approach. I do not see the benefit of testing being restricted.

A study out earlier this year in the Journal of Clinical Oncology assessed data from 959 breast cancer patients and found that 49.95 percent met NCCN criteria. The authors recommended complete genetic testing.

Another study in the same publication published this year was based on data from more than 83,000 women on cancer registries in California and Georgia. About one-quarter of them with breast cancer and about one-third with ovarian cancer had genetic testing in 2013 and 2014.

Several organizations recommend genetic testing for ovarian cancer, but there are fewer that do for breast cancer patients, the authors reported.

Dr. Peter D. Beitsch, a surgical oncologist from Texas who was part of the first supporting study mentioned, told Healthline he agrees that breast cancer patients need genetic testing upon diagnosis. The new research is in line with his findings.

Testing involves a saliva or blood sample, which is easy either way, Beitsch said.

Generally, most patients can pay up front for testing, which costs about $250, Beitsch said.

Insurance does not cover genetic testing for all breast cancer patients at the moment, Beitsch noted. This is because they still follow NCCN guidelines, which have shown to be poor at determining mutation carriers.

Depending on the testing company, testing for cancer genes with expanded panels can cover anywhere from 30 to more than 80 genes. It can identify other organs that may be at risk for cancer, such as pancreatic cancer or melanoma. It can also pinpoint others in a family who may harbor mutations.

They can then be watched more closely or even undergo prophylactic surgery to prevent them from getting a cancer, Beitsch explained.

After unilateral breast cancer, mutation carriers can choose to have a mastectomy on the affected breast, or preventative mastectomy of the second breast to reduce their risk for cancer in that breast, Manchanda explained.

Additionally they can opt for a surgical ovarian cancer intervention. People who have the genes may also be eligible for novel drugs or other drug therapies through clinical trials.

A major advantage of genetic testing is enabling testing relatives of breast cancer mutation carriers, to identify unaffected relatives carrying mutations who can benefit from early diagnosis and cancer prevention, Manchanda said.

Testing everyone instead of being restricted by family history will identify many more mutation carriers and their family members who can benefit from precision prevention. A large proportion of these cancers are preventable in known unaffected mutations carriers, he added.

Some people dont undergo testing because they dont want to know if they have mutations, while others who do have testing may experience guilt if they dont have the mutations that impact family members, Beitsch noted.

The problem with genetic testing is not over testing, it is under testing, Beitsch said. Theyve found less than 10 percent of people with BRCA1 and BRCA2 variants, and much less than that for the other 30+ genes linked to cancer.

However with increased testing, we must provide education and tools for testing and interpretation to physicians to ensure management is optimized, lives are saved, and genetic mismanagement is minimized, he added.

With test costs declining and hopefully more people given the opportunity to undergo testing, more people can take preventative action to minimize their cancer risk through prevention or early diagnosis options, Manchanda said.

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Here's Why All Women With Breast Cancer Should Get Genetic Testing - Healthline

Patients at risk of developing cancer can now get faster, more accurate diagnoses, thanks to new genetic and blood tests.

A new diagnostic tool called +RNAinsight allows clinicians for the first time to use paired genetic testing to detect the risk for hereditary cancers, possibly affecting thousands of patients.The biomedical firm Ambry Genetics Corp. manufactures the test, which launched Tuesday.

DNA testing is the standard for hereditary cancer screening, but it excludes large portions of hereditary material, thereby missing variants that increase risks for cancer. But adding RNA to DNA testing can provide more evidence about whether genes have the variants, according to Ambry Genetics.

This is the first time we are offering paired DNA and RNA testing, said Emily Dalton, director of the genetic specialist team at Ambry Genetics. Its going to allow us to identify more patients who are at risk for hereditary cancers and actually provide more accurate results to inform patient care as well.

Researchers also have developed a single blood test that can detect numerous cancers with a degree of accuracy that exceeds 99%.

The test, made by the health care company GRAIL, uses next-generation sequencing technology to search for tiny chemical tags (methylation) in DNA that affect whether genes are active or inactive. It detected more than 20 cancers including breast, colorectal, esophageal, gallbladder, lung and leukemia.

When the test was applied to nearly 3,600 blood samples, it successfully picked up a cancer signal from cancer patient samples and pinpointed the tissue where the cancer began.

Geoffrey Oxnard, thoracic oncologist at the Dana-Farber Cancer Institute and one of the studys researchers, said the blood test uses the cancerous genes to better find cancers.

If we know what a cancerous DNA looks like, then we can go hunting for it, Dr. Oxnard said. We can hunt for all the cancers and then once we found a signal, we can clarify if that is a colon cancer signal or a head and neck signal. And thats amazing.

While some cancers are related to a patients inherited genetics, Dr. Oxnard said cancerous genes more often are completely haywire in different ways.

This year, an estimated 1,762,450 new cancer cases will be diagnosed in the United States and 606,880 people will die from the disease, according to the National Cancer Institute.

The most common types of cancer, according to 2018 figures, are breast, lung and bronchus, prostate, colon and rectum, melanoma, bladder, non-Hodgkins lymphoma, kidney and renal pelvis, endometrial, leukemia, pancreatic, thyroid and liver.

This year, almost 700,000 people in the U.S. are expected to seek testing to determine whether they have genetic mutations linked to increased risks of cancers. Of those, an estimated 16,000 people could be affected by the new paired genetic test, said Ambry Genetics.

Kara Milliron, genetic counselor at the University of Michigans comprehensive cancer center, said results from genetic testing for cancer screening could come back in three ways: positive, negative or variant of unknown or uncertain significance.

She said the paired genetic testing provides a better look and interpretation of these variants of unknown significance. The University of Michigans cancer center was one of more than 40 sites in a pilot study that used the +RNAinsight tests on patients.

Cancer is a significant public health problem. It causes tremendous morbidity and mortality every year, Ms. Milliron said. Any improvements to genetic testing where we can get better answers for patients I think is really, really important. And it does have a significant impact on our ability to take care of patients in the best way.

Updated from earlier to clarify the testing does not diagnose cancer but rather helps patients understand their risks of developing a hereditary cancer.

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Paired genetic tests give patients better idea of their risk for cancer - Washington Times

One of 35 people charged in connection with a $2.1 billion health care fraud scheme owns a genetic testing laboratory in Lower Nazareth Township.

Dozens of telemedicine companies and cancer genetic testing labs allegedly billed Medicare for tests patients didnt need, according to a news release from federal authorities. The release calls the scheme one of the largest health care fraud schemes ever charged.

It involved the payment of illegal kickbacks and bribes by genetic testing laboratories in exchange for the referral of Medicare beneficiaries by medical professionals working with fraudulent telemedicine companies for expensive cancer genetic tests that were medically unnecessary, the release says. The news release was issued Friday, Sept. 27.

Often, the test results were not provided to the beneficiaries or were worthless to their doctors, the release says.

Some of the defendants allegedly controlled a telemarketing network that lured hundreds of thousands of elderly and disabled patients. They allegedly paid doctors to prescribe testing without any patient interaction or with only a brief phone conversation with patients they had never met or seen, the release says.

Among the defendants is Minal Patel, 40 of Atlanta, Georgia. He owns LabSolutions, which has offices in Georgia and at 3729 Easton Nazareth Highway in Lower Nazareth Township, records say. Hes charged with 13 federal crimes including health care fraud and conspiracy, records say. He was charged Tuesday, Sept. 24, and the indictment was unsealed Wednesday, Sept. 25, court records say.

Patel solicited medically unnecessary tests from Medicare beneficiaries through telemarketing and health fairs, records say.

LabSolutions allegedly billed Medicare for more than $494 million. In addition, the government seized approximately $30 million in bank accounts from Patel, a Ferrari and a Range Rover, the news release says.

Patels attorneys, Robyn Lynn Sztyndor of Coral Gables, Florida, and Steven H. Sadow, of Atlanta, didnt return messages seeking comment.

Rudy Miller may be reached at rmiller@lehighvalleylive.com. Follow him on Twitter @RudyMillerLV. Find Easton area news on Facebook.

See the article here:
Lower Nazareth lab linked to 1 of the largest health care fraud schemes ever charged - lehighvalleylive.com

What is genetic testing?

Maybe youve heard about genetic testing for diseases and wondered: What does that mean? Should I do it? What do the results mean? Heres what you need to know.

For example, you may be familiar with women who are at risk for or have breast cancer getting tested for genes called BRCA1 and BRCA2. It may sound like they are getting tested to see if they have BRCA1 and BRCA2 but everyone has these genes, says Monique Lubaton, MGC, CGC, cancer genetic counselor for LifeBridge Health. The genetic test actually determines if the BRCA1 and BRCA2 genes have mutations. In other words, if the test is positive, it means that mutations are present.

However, only about 5-10% of all cancer is due to an inherited gene mutation, so these mutations are rare.

A mutation is when a gene changes. Genetic mutations can be hereditary or happen randomly.

Non-hereditary genetic mutations can by caused by things like:

Lets go back to BRCA1 and BRCA2. A genetic test determines if one (or, rarely, both) of these genes have mutations. If these genes are damaged, a person is up to 80% more likely to get breast cancer. Why? As a tumor suppression gene, the BRCA genes job is to stop cells from growing and dividing rapidly. Therefore, if it has a mutation, cells can develop into cancerous tumors. Theres no foot on the brake, says Lubaton.

So what does it mean for you if you test positive? Genetic test results, such as the discovery of mutations on BRCA1 and BRCA2, are complex and many factors must be considered. A genetic counselor can interpret the results, explain them to you and discuss your options. For example, if you need treatment, genetic information can help make your treatment more effective. There are even new medicines that target certain types of mutations.

Lubaton says that there are a few red flags to keep in mind:

Additionally, genetic testing can help people who have cancer learn why they developed it and if they are at risk for other types. This information is also important for their family members, who may be at risk themselves. However, testing may not be helpful for people who are not considered high risk.

You can meet with a genetic counselor to discuss your personal and family history. If you are a candidate for testing (determined by guidelines and insurance), then your blood will be sent to a reputable clinical genetic laboratory. Once those results are back, the genetic counselor will discuss the results with you.

Over-the-counter tests have become popular, but Lubaton says that people should be cautious about their use.

For example, one over-the-counter test only looks for only 3 out of 1,000 known mutations in BRCA1 and BRCA2, which are common in the Ashkenazi Jewish population. These tests also only do one type of imprecise analysis (called genotyping), but a clinical lab test does two types of analysis that are much more accurate.

When the results of an over-the-counter genetic test come in, people might misunderstand the results, and come to incorrect conclusions, both positive and negative. It is important to know that even if you test negative for a gene mutation, it doesnt mean that you wont get cancer, says Lubaton. Also, because science is evolving, knowledge about genes and treatments is changing and a person might base their own conclusions on information that is not current. Direct-to-consumer testing is not comprehensive if you want to learn accurate risks about disease, says Lubaton.

Genetic testing is as complicated as genes themselves. If you think you should be tested or learn more about it, you should speak with a genetic counselor.

If you are concerned about your personal or family history of cancer, a genetic counselor at the Alvin & Lois Lapidus Cancer Institute can review this history, explain hereditary cancer syndromes in greater detail and discuss the benefits and limitations of genetic testing. For more information, call 410-601-5085. Referrals can be faxed to 410-601-4601.

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What You Need To Know About Genetic Testing - CBS Baltimore

The child was critically ill. The treating team at Children's National Hospital in Washington, DC, was stumped and worried that time was running out. Every test was coming back negative.

Genetics was called in to look for chromosomal mutations that might suggest the source of the problems. The geneticist recommended whole-exome sequencing, which tells a story based not only on all of the child's genes, but on two additional sources as well: the mother's and the father's genes.

They found something they weren't looking for. The father, the worried man in the waiting room who raised this child, wasn't the biological father. In genomics it's called an "incidental finding," and it raises huge ethical questions: Do you reveal this to the parents? Only to the mother? Or, if the results don't affect the child's care, do you even tell anyone?

In this case, the team called on the hospital's ethics committee for help.

Monisha Samanta Kisling, MS

"What made it really complicated here is that the father was actually the primary caregiver and was really, really involved with the child," explains Monisha Samanta Kisling, MS, a genetic counselor who has worked at Children's National for 7 years. Plus, the father was the legal parent and responsible for the family as a provider, including securing the child's health insurance. Disclosing this information could have a lasting, lifelong effect.

"He has dedicated his life to and does everything for the child. You're really at risk of causing potential serious conflict for this family, and potentially for this kid who really needs that support system," Kisling says.

If you think this scenario is an outlier, you're mistaken. Various studies have estimated rates of false paternity at between 1% and 10%.[1]

The field of genomics calls misattributed paternity or in some cases, simply paternity a "secondary" or incidental finding. Perhaps, but it's certainly difficult to ignore.

"In a lot of cases, it's just very hard to hide that information with the report that you have," Kisling explains, because the variants that a geneticist discovers in the child's DNA don't match up at all with the father's genes. "If the child didn't inherit any of the variance from the father, that would throw in some question marks, right?"

Paternity might be incidental, but it's clearly significant. This information whether a father is truly a child's biological father can change families in an instant.

Whether to disclose poses a dilemma that can feel fraught. Telling a man that he's not the father of his child can have devastating consequences: He might leave the family. The standard in pediatrics is to practice medicine "in the best interest of the child"[2]; first and foremost is the child's well-being. That means keeping the focus on the child and their future.

Still, because there are really no data about how these shocking disclosures affect families, doctors are truly in the dark about how to handle these tricky scenarios.

"It's hard to make these decisions because we may not know the families that well. We don't necessarily know what's the right decision for them," Kisling says. She believes clinics should approach each family with fresh eyes, because every couple is different.

"I think withholding information can feel paternalistic," Kisling says. "We don't want to say, 'Hey, I don't think you can handle this information.' That's not necessarily our judgment call to make. Overall, it's just a really, really tough decision."

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'You're Not the Father': A Moral Dilemma in Genetic Testing - Medscape

KANSAS CITY, Mo. Its a quick test that can unlock the secrets of the past, present, and potential risks in the future.

But is the DNA test dilemma worth the risk?

According to MIT, more people took consumer DNA tests in 2017 than ever before. Most of those results were mailed to homes in the United States. If you crunch the numbers, about 25% of American adults have taken one of the popular at-home tests.

Massive price drops in 2017 led to a surge in popularity with several companies running Black Friday promotions offering test results for under $60, as well as other deals.

The market for the kits continued to grow because its a simple, easy test that can answer all kinds of questions we have about ourselves and provide answers to questions we dont even realize we have.

But, before you dive into your familys DNA makeup, there are some things you need to consider before buying a kit.

The Risks

There are many risks, that pop up when people start taking about these at-home kits. Ironically, the biggest risks dont have anything to do with health issues or previously unknown family members the tests may identify. Here are four of the biggest risks to consider.

Protect Yourself

Obviously, the easiest way to protect your DNA is to never submit it.

If youve decided that you want to go ahead with a test, you may want to consider taking to your doctor about it instead of grabbing a kit from the store. If a doctor takes your DNA sample, its protected by HIPPA, just like other medical procedures.

HIPPA determines how medical information can be shared. HIPPA doesnt cover consumer, or at-home, DNA kits. It actually falls under the authority of the Federal Trade Commission, which has different policies and protections.

While genetic testing can provide all kinds of information, how much do you know about the company youve chosen to do your DNA test?

If youre thinking about it

Here are four things to consider to help protect yourself in the future.

What if Ive already taken a test?

Youve taken the test and have your results. Now youre concerned about having those results floating around out there.

Dont panic, but keep in mind that the U.S Government has quality control guidelines. Because of those guidelines, companies are required to keep DNA information. That means if youve submitted your DNA, its not possible to completely delete the information.

However, all hope is not lost. This is the closest you can get to purging your information from four of the largest DNA Kit sites:

Ancestry

1. Sign into your Ancestry account2. Click on the DNA tab3. Choose Your DNA Results Summary4. Click Settings5. Choose Delete Test Results and enter your password again to confirm you want to delete the detailsIf you complete this process, you will permanently lose your ability to view any AncestryDNA data related to your search. It will also prevent you from showing up in any family finder searches.

23andMe

1. Sign into your 23andMe account2. Click on the account settings page3. Find the 23andMe Data4. Click on Delete Your DataIf you complete this process, you will have the option to download your data before its deleted.

MyHeritage

1. Log into your account2. Click your name in the upper-right hand corner3. Click Account Settings4. Click Delete Account at the bottom of the page

Living DNA

Youll need to contact the company at the help desk. Be prepared to provide your unique LD reference number and why youd like to delete your data.

Its also possible to revoke the permission if youve already allowed a company to share your data. Keep in mind it will be nearly impossible to delete your data from third parties that already have it on file.

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Beware of these four risks when you share your DNA with a genetic testing company - WDAF FOX4 Kansas City

New guidelines for genetic testing should help more women and their relatives take steps to improve their odds against cancer that might run in the family.

All women who have had cancer of the breast, ovary, Fallopian tubes or peritoneum tissue in the walls of the abdomen should be offered a screening tool to determine their risk of mutation, new U.S. Preventive Services Task Force guidelines say.

The new recommendation removes a wording that limited testing to those diagnosed at younger ages.

Thats a pretty big thing, genetic counselor Kimberly Knapp said at Joyce Murtha Breast Care Center in Windber.

In the past, screening for breast cancer susceptibility genes BRCA1 and BRCA2 was recommended for women who developed breast or ovarian cancer before age 50 and others who had certain types of cancer before age 60.

Now, we dont have to age discriminate, Knapp said.

Anyone with a significant family history of breast or ovarian cancer should also consider genetic screening, which begins with a thorough review of family cancer history with a trained counselor, Knapp said.

Those women can contact breast cancer programs at several of the regions hospitals to find out more about their risk.

Genetic counselors will be able to help determine if they are eligible for genetic testing for the BRCA1 or BRCA2 gene mutations.

BRCA is shorthand for breast cancer, but the mutations are also associated with an increased risk of other cancers.

Genetic testing at Joyce Murtha Breast Care Center at Chan Soon-Shiong Medical Center at Windber tests for the BRCA gene, Knapp said.

Because researchers continually find more genetic links, Windber offers a genetic screening for a panel of almost 50 different mutations.

The new guidelines expand the pool of patients who are eligible for insurance coverage of the test, she said.

At Indiana Regional Medical Center, breast surgeon and genetic counselor Dr. Dan Clark works with families to screen for 24 gene mutations.

Screening is not just a yes or no. You get a report with four pages of results, he said at the hospital.

The report may recommend additional screenings for hereditary cancers, including breast, ovarian and colon cancer.

We know there are a lot of other cancers associated with genetics, he said.

But most cancer is not hereditary, he warned.

The American Cancer Society estimates between 5% and 10% of all cancers come from gene mutations passed on through families.

Clark fears heightened attention on genetic risk may cause women with breast cancer in their families to think they are not at risk, noting most breast cancer patients have no family history of the disease.

Randy Griffith is a multimedia reporter for The Tribune-Democrat. He can be reached at 532-5057. Follow him on Twitter@PhotoGriffer57.

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Breast cancer awareness | Genetic testing expanded to help those with disease in their families - Clinton Herald

San Francisco, CA (UroToday.com) -- Ambry Genetics(Ambry), a leading clinical genetic testing company, announced the launch of+RNAinsight, a major advancement in genetic testing. +RNAinsight enables clinicians for the first time ever to conduct both DNA and RNA genetic testing at the same time. Substantially more often than DNA testing alone, this paired testing identifies whether someone has a genetic mutation that either increases their risk for developing cancer or that may have contributed to their existing cancer. This is the first genetic testing advancement in over a decade to significantly increase the diagnostic yield (meaning the number of patients identified with a specific hereditary risk for cancer) in genes likeBRCA1andBRCA2. Ambry is the first and only lab to offer paired RNA and DNA genetic testing for hereditary cancer.

DNA testing alone can produce inconclusive, unhelpful results on whether a genetic variant (an error in our DNA) increases the risk for cancer. Moreover, standard DNA testing for hereditary cancer excludes large portions of DNA, thereby missing variants that cause increased risks for cancer. Adding RNA to DNA testing overcomes these limitations for a significant number of patients as RNA provides considerably more evidence than DNA alone about whether the genes in our DNA have variants that cause increased risks for cancer. Clinicians can then use this information with patients and their relatives to try to prevent cancer from developing or to detect cancer early.

We developed paired RNA and DNA testing to provide more accurate and conclusive results that patients and doctors can act on, said Aaron Elliott, PhD, CEO of Ambry Genetics. With +RNAinsight, we not only identify mutations that DNA testing alone would miss, we also provide answers for patients who have been dealing with inconclusive results for years.

This year, almost 700,000 people in the United States are expected to turn to clinical labs for clinical-grade genetic testing to learn whether they have genetic mutations linked with increased risks of cancer. By pairing RNA and DNA testing, it is estimated +RNAinsight may help more than 16,000 of these individuals get the genetic information they need that they might not get from DNA testing alone.

In fact, +RNAinsight will actually help more than these 16,000 individuals because this number does not include their relatives who can then be tested to learn of their own increased risks. Nor does it include patients previously tested who had received inconclusive results from DNA testing alone and will now receive reclassification reports based on +RNAinsight.

Paired RNA and DNA genetic testing is a remarkable leap forward.My patients arefinally getting answers I was unable to provide before, said Huma Rana, MD, Clinical Director of Cancer Genetics and Prevention at Dana Farber Cancer Institute. In our short time using this technology, we have made meaningful changes to patient care.

Additionally, the data illustrates +RNAinsights ability to clarify results that were previously deemed inconclusive as a result of DNA testing alone. +RNAinsight was able to decrease the number of inconclusive results across the included cancer risk genes by approximately five percent relative to DNA testing alone.

+RNAinsight builds on an earlier breakthrough in RNA genetic testing that Ambry led. For three years, Ambry has offered RNA testing retrospectively looking at RNA after DNA testing was complete. While helpful, retrospective RNA testing has limitations that +RNAinsight does not, such as not being able to identify mutations that the earlier DNA testing failed to find and patients who are lost to follow-up.

+RNAinsight is now available through doctors and genetic counselors around the country. For more information on paired RNA and DNA testing, please go towww.ambrygen.com/RNAinsight. For more information on risk factors for hereditary cancer, please visit cancer.govsfact sheeton hereditary cancer and genetic testing.

Source: Cancer, Ambry. 2019. "Ambry Genetics Makes Scientific Breakthrough And Launches Paired RNA And DNA Testing For Hereditary Cancer".Ambrygen.Com. https://www.ambrygen.com/about/press-release/118/ambry-genetics-makes-scientific-breakthrough-and-launches-paired-rna-and-dna-testing-for-hereditary-cancer.

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Ambry Genetics Makes Scientific Breakthrough and Launches Paired RNA and DNA Testing for Hereditary Cancer - UroToday

If you think not having a family history of cancer means you have less chance of getting it, think again.

During four years of genetic testing more than 4,100 people with the Information is Power Initiative at HudsonAlpha Institute for Biotechnology, the results revealed less than three percent of those tested received a positive result.

More than 50 percent of people who received a positive result, which means they have an increased risk of cancer, did not have a strong history of cancer in their family, said Dr. Sara Cooper, a faculty investigator at HudsonAlpha who leads the Information is Power Initiative and runs a lab that conducts cancer research. For example, for the vast majority of breast cancer there is no genetic reason that we know about.

A sedentary lifestyle, being obese and diabetes are indicators for cancer, she added.

The Information is Power Initiative is a collaboration between HudsonAlpha and Kailos Genetics, which is located on the HudsonAlpha campus. The program offers free and reduced cost genetic testing, available by ordering an online kit that includes instructions on how to do a simple DNA sample collection at home, before returning the sample by mail. Kits can be ordered at http://www.hudsonalpha.org/information-is-power

Cooper said as of Aug. 1, 2019, more than 4,100 people had participated in the initiative and took the Information is Power test.

Without this initiative, these individuals would likely not have been offered this kind of test at their physicians office, she said.

Nancy Archuleta, a retired Huntsville businesswoman, said what HudsonAlpha does with its genetic testing related to cancer is something near and dear to her heart because her daughter is a breast cancer warrior.

Any person in todays environment is aware of breast cancer, Archuleta said. You see it on TV, you see the pink ribbons, you see it on license plates and in all actuality, you probably know someone who has had breast cancer. You can reach out into any room and find somebody who has been touched by it.

Awareness is one thing, she said.

When the bulls-eye is on you, thats when you really become aware of how little you know about it, Archuleta shared. You really become aware of your insignificance almost. Its so very important to know everything you can know about it and that is why I will tell you what HudsonAlpha is doing is taking you to the next level of awareness.

Archuleta said her daughter, who lives in Dallas, is fighting her second battle of two unrelated types of breast cancer.

Most people dont know that 75% of breast cancer is spontaneous, not genetic, she said.

Archuleta has gone through paralyzing fear that she had to overcome at times to be an advocate for her daughter as well as take better care of herself.

We used to make our contributions, Archuleta said. But when you personally realize that your dollars make a difference at a place like HudsonAlpha, where theyre really, really taking the issue to heart, then all of a sudden youre putting your money where your mouth is.

The Information is Power Initiative has identified more than 70 genetic changes associated with increased risk of cancer among the tested individuals, representing changes in 17 different genes, she said.

Participant ages have ranged from 19-96 and have been from Madison, Jackson, Limestone, Marshall and Morgan counties in North Alabama. Cooper said 51 percent of tests done during the past four years were free. The other 49 percent were offered at a discounted rate.

The discounted and free rates are made possible by a sponsorship from the Russel Hill Cancer Foundation and donations from the community. HudsonAlpha will host the annual Tie the Ribbons fundraiser Nov. 7, which benefits breast and ovarian cancer programs, including Information is Power.

For more information about the Tie the Ribbons event, contact Elizabeth Herrin at elizabeth.herrin@hudsonalpha.org or go to http://www.hudsonalpha.org/foundation/tie-the-ribbons-event.

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Behind the genes of breast cancer | Special Reports - Theredstonerocket

After losing my mom to ovarian cancer, I had always assumed that I too would be diagnosed with ovarian cancer at some point in my lifeprobably at an early age. She passed away when I was six years old, so my memories of her are blurred with the stories that other people tell. I was just so young.

The thought of getting cancer constantly took up space in my mind, leaving me on edge. It wasnt a daily software that I ran, but it would creep up on me suddenly when I thought about my mom or saw a movie where a character had cancer.

Upon visiting the gynecologist, I would sometimes ask for medical advice on genetic testingbut I always got the same sort of response:

undefined

This response was a relief of sorts; it was a waytonot haveto deal with actually getting the testing done. I could put it on the back burner of my mind and life, right? Well, not so much.

Unsure of even how to pronounce this genetic test so unknown to me, I decided to do some basic internet research. BRCA tests for cancer risk caused by BRCA1 and BRCA mutations. These mutations can be inherited from either parent, and given my moms history of ovarian canceras well as my grandmothersit seemed like I would be a likely candidate.

Following a referral from my gynecologist, I found myself in the waiting room of a comprehensive cancer center one Tuesday morning. For some reason, I thought the room would be filled with other 20- and 30-somethings hoping to get genetic testing done.

I was wrong.

In the waiting room, I saw families, spouses, and cancer patients. Being there immediately brought back so many memories. Im not even sure if Id experienced them or just been told those storiesmemories of my moms illness, and what it must have been like for her to be sick.

When my name was called, I met my genetics counselor and we sat in a room that didnt feel medical at all. It honestly felt closer to a therapists office. Once I sat down with my counselor, I immediately felt at ease. During our two-hour meeting, she explained what the BRCA test was and the different types of genetic mutations that could occur. As we reviewed my family medical history, the counselor reminded me that though I might receive certain results, nothing was certain.

Halfway through the meeting, she asked how I felt about the testing itself, on a more personal level. I immediately burst into tears. I knew I needed to do get the test done, not only for my own peace of mind and health, but so other family members could know as well.

And I felt dumb for being scared when all I had to do wasspit into a cup. But the entire experience carried a ton of weight.

So many thoughts raced through my mind: What were the symptoms of ovarian cancer? Would having it impact the possibility of having kids? Did I want kids? And, of course, would it all even matter if I had minimal luck with dating?

While the counselor did her best to answer my questions, she wanted to make sure I was okay to go through with the test. Though it was a morning full of exhaustion and tears, I knew I was ready. She handed me a saliva sample kit, which was very similar to the experience of 23andMe. Twenty minutes later, I was doneand I would have to wait a month for the results.

In the days leading up to finding out my results, there was an aching fear in my body. Being in limbo is always scarybut then so is the unknown. My overactive imagination certainly didnt help.

Sitting between my genetics counselor and a close family friend, I was finally ready to hear the outcome of the test. I was convinced that Id be diagnosed with either a genetic mutation or would be told that I had ovarian cancer.

I cried in reliefand also out of shock. I had only expected a negative outcome, and honestly didnt know what to do with myself.

This doesnt mean that I will never get ovarian cancer, but it does mean that the risks are much lower than they would be if I tested positive for a genetic mutation. It put so much into perspective, while also relieving a huge amount of worry from my life. I feel incredibly lucky and happy with my choice to get this testing done. I miss my mom every day, and now I can let go of that specific anxiety and move forward, taking care of my body in a more intentional way.

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I stopped putting it off and finally got the BRCA gene test - Yahoo Lifestyle

The importance of getting an annual mammogram is one of the key messages of Breast Cancer Awareness Month. For some women, genetic testing can also play a big role in detecting breast cancer and saving lives.

Some genetic mutations can greatly increase a womans chances of getting breast cancer.

Mutations of BRCA1 and BRCA2 genes can be passed down through a mother or a father. A BRCA mutation is the single, biggest risk factor for breast cancer.

A woman who carries one of these gene mutations has the following chances for breast cancer:

80% chance of getting breast cancer in her lifetime

50% risk of getting breast cancer by age 50

64% chance of getting breast cancer twice in a lifetime.

Genetic testing provides another layer in our efforts to detect breast cancer early so treatment can begin earlier, said Aimee Griffin, director of The Breast Center at Floyd and director of imaging services at Floyd Medical Center.

Genetics can play such a big role in the possible development of breast cancer, and its important for woman to understand there are steps they can take to cut down on that risk, Griffin continued.

Genetic breast cancer risks include:

You are a female who was diagnosed with breast cancer before the age of 50.

You are a male who was diagnosed with breast cancer at any age.

Your mother, sister, daughter, grandmother or aunt had breast cancer before age 50 or ovarian cancer at any age.

A close male relative was diagnosed with breast cancer.

Women who know they carry the mutated BRCA1 or BRCA2 gene can take steps to manage their cancer risks, including: more frequent, detailed cancer screenings and exams; taking certain drugs to prevent, delay or reduce the risks of cancer; and elective, radical surgery.

While BRCA 1 and BRCA 2 are the most widely known genetic alterations that impact a womans risk for breast and ovarian cancer, there are many other types of genetic alterations that can put a woman or a man at increased risk for breast cancer. The nurse practitioners at The Breast Center at Floyd are all graduates of City of Hopes Clinical Cancer Genetics program, and are specially trained in genetic evaluation, counseling, and testing and can help you and your family understand your cancer risk.

For more information about counseling or genetic testing, contact The Breast Center at Floyd at 706.509.6840.

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Genetic testing adds another layer to breast cancer prevention - Northwest Georgia News

The human body is a wonderfully and mind-numbingly complex machine, with any new therapy or medication kickstarting thousands of chain reactions barely perceptible to patients. The relatively-few effects that do matter can be deadly. Prescription drug-related deaths cost the healthcare system and grieving families more than $100 billion annually. Fortunately, cutting-edge consumer genetic kits can sound the alarm on potential problems that could arise if a patient takes a certain drug or drug of a certain class. But the Food and Drug Administration (FDA) never lets a good regulatory opportunity go to waste. The agency is determined to keep key prescription information out of the hands of patients and block some genetic tests altogether pending an onerous paperwork process. The FDAs war on genetic testing will harm patients and make it harder for millions of Americans to get the lifesaving care they need.

The next generation of medications holds significant promise for patients suffering from illnesses ranging from depression to malaria to bladder cancer. But, with this potential, patients must deal with the endless frustration of their bodies not responding properly to newly-available treatments. This is a particularly pressing problem in the world of anti-depressants where patients are asked to go through an agonizing trial-and-error process with different medications. Genetic testing companies such as Color Genomics and 23andMe have a solution for this and received FDA authorization in 2018 to add a depression component to their gene test results (available online to participating consumers).

For the first time, consumers can find out cheaply and quickly whether they have the gene variants typically responsive to anti-depressants. Patients can in turn easily pass this information along to their medical providers, who can prescribe accordingly. This genetic information revolution is trumpeted by scientific bodies such as the Association for Molecular Pathology, which recommends that providers be made aware of any information regarding the tests interpretation[including] A generalized statement to alert healthcare providers when alternate dosage or drug treatment may be considered based on the results.

But just as the FDA giveth, the agency threatens to taketh away. The first troubling sign came in October 2018, when the agency warned consumers and physicians against using these tests to determine whether certain medications should be embraced/avoided. After muddying the waters, the agency began to move against smaller testing companies guilty of the egregious sin of not consulting with the FDA. In April 2019, the agency sent a strictly-worded warning letter to Inova Genomics for, illegally marketing certain genetic tests that have not been reviewed by the FDA for safety and effectiveness.

In the perfect world of monolithic Washington bureaucrats, all companies offering innovative scientific services would submit thousands of oft-redundant pages of research for FDA review at a cost of hundreds of thousands of dollars for each small addition. In reality, smaller companies simply cannot keep pace with these regulatory requirements.

And if consumer genetic testing becomes the sole domain of a few large companies, the quality of testing and incentive to improve and update results will suffer. The FDAs logic only works assuming that the agency is better at gauging efficacy than prescribers and scientific bodies. But if the FDAs sorry track record with vaping products and nutritional foods is any indicator, the agency has had more than its fair share of misfires.

Rather than going down the same, tired road of restricting lifesaving innovations, the FDA should greenlight genetic testing and allow the market to develop. Consumers deserve access to inexpensive tests that could help them and their providers navigate through the tricky world of difficult-to-pronounce medications with scary side effects. The FDA could save thousands of lives and billions in healthcare costs by taking a step back and enabling patients to take charge of their own medical care.

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FDA Must Allow, Not Thwart, Genetic Testing Revolution | Ross Marchand - The Beacon

Israeli artificial intelligence (AI) solutions company RSIP Vision has partnered with BioView, a cell imaging and analysis solutions provider, to use artificial intelligence (AI) for classifying chromosomes for accurate genetic testing.

Chromosome classification for genetic testing, known as karyotype classification, involves pairing of chromosomes to identify any irregularities.

The procedure is often performed manually by cytologists. However, the manual approach is expensive and time-consuming.

The AI solution is expected to reduce time, as well as the expense associated with genetic testing, providing a significant improvement in results.

RSIP Vision CEO Ron Soferman said: Machine learning provides the unique capability to both segment and straighten out chromosomes so that the results that the patient receives are as accurate as possible.

When patients are undergoing genetic testing, it is often a sensitive time for them they are testing for various conditions that could potentially affect their lives forever. Reducing the time for patients to receive the results of genetic testing is a step in making this process easier and smoother, providing patients with the correct answers, faster.

During karyotype classification, cytologists analyse chromosome size, shape and number, as well as abnormal locations and pieces. The information indicates abnormal growth development or body functioning.

Machine learning boosts the genetic testing process through the capture of several data sets for the training phase.

RSIP Vision and BioView leveraged a deep learning technique trained on extensive datasets to facilitate precise data correlations for fast identification of any abnormalities.

BioView deployed the AI solution in Duet Image and Analysis systems at hospitals across the US and Europe. The solution led to increased testing throughput, as well as more accurate results when compared to other solutions, according to the companys customers.

In May, RSIP Vision launched an AI solution to match patients undergoing knee replacement surgery with the best possible implants.

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RSIP Vision and BioView to use AI for accurate genetic testing - Medical Device Network

(Fargo, ND) -- Gene testing is benefiting more women than ever by allowing them to dive deeper into their families history with breast and ovarian cancer.

"Do I wish 10 year ago I would've done this testing? Absolutely."

This is what two time cancer survivor and Sanford Roger Maris Cancer Center patient, Sandy Dunn, had to say about the genetic testing.

"I was diagnosed with breast cancer in 2008. I was 44 years old and then I had a recurrence in 2010," says Sandy.

During this time, her oldest daughter was diagnosed with breast cancer, just two weeks after her 34th birthday.

"They knocked her down pretty hard. She's pretty weak. It's very hard to see,um, she still has that beautiful smile though. I'm sorry. This has been tough. It's the hardest thing I've ever gone through in my life, but we're going to survive this, too."

After her daughter's diagnoses, Sandy took her and her youngest daughter to get genetic testing for breast cancer.

This test is a simple blood draw, but doctors are able to see if there is a gene that is increasing a risk for cancer, like the BRCA Gene.

"They're the ones that we know are associated with breast and ovarian cancer and then also prostate cancer in men," says Genetic Counselor Meghann Reardon.

This type of gene testing also shows doctors if these types of cancers are hereditary.

Reardon explains, "so, if a person test positive, we know that all their children - boys and girls - are at a 50% risk to have inherited that as well."

Knowing that information, Sandy wishes she would've taken the test sooner.

"As we started digging into this, I learned that there was other women in our history that had breast cancer and some of them had not survived. This was not information that we were discussing in our family. So this test brought up these topics of conversation," says Sandy.

While, Sandy said it was scary to have her BRCA test come out positive, she says it was also empowering. Moving forward, she can make her own decisions. Like other surgeries that can help lower her risk of getting breast or ovarian cancer, again.

"I keep saying that I've been driving in this car that's been weaving all over the road and I don't know what it's going to smash into and my driver has been cancer. This BRCA testing puts me in the drivers seat," says Sandy.

Meaning now, she's kicking cancer to the curb.

At this time, BRCA gene testing is only for patients with a concerning personal condition or family history of cancer.

If you'd like to know more, it's advised to speak with your doctor.

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BRCA Gene Testing allowing patients to dive deeper into their families history of breast cancer - Valley News Live

Its hard to regard Ellie as a menace.

When Greg Manteufel is frustrated or feeling down, she sits by him. At night, she sleeps under his covers. At dinner, shes there next to him, knowing hell throw something her way. She belies the stereotype of the vicious pit bull.

We love her like shes our daughter, he said of the dog.

And yet, Ellie may be the reason Manteufel, 49, nearly died.

Gravely ill, he lost parts of his arms and legs, as well as the skin of his nose and part of his upper lip. The cause was capnocytophaga, a germ from Ellies mouth or from another dog he encountered.

READ MORE: Dog owners limbs amputated after contracting rare infection from lick

Capnocytophaga is commonly found in the saliva of cats and dogs and almost never leads to people getting sick, unless the person has a compromised immune system. But Manteufel was perfectly healthy. In fact, he doesnt think hed ever used his health insurance before he fell ill.

The case is extremely rare and doctors at his hospital, Froedtert & the Medical College of Wisconsin, had no explanation for why he got so sick. But over the last 10 years there have been at least five other healthy people who have had severe reactions to the germ. A team of researchers connected with Harvard Medical School has developed a theory on why a gene change in all the victims.

And their finding means doctors cant rule out the capnocytophaga bacteria could strike Manteufel and other victims again.

Greg Manteufel thought he was getting the flu in June of 2018. He had a fever, vomiting and diarrhea. But when he started getting confused, his family took him to the hospital.

Doctors did blood cultures and found capnocytophaga, which caused sepsis, a severe blood infection that led to his blood pressure dropping and many of his organs shutting down.

Do what you have to, to keep me alive, he told the doctors.

In this Aug. 2, 2018 file photo provided by Dawn Manteufel, Greg Manteufel lays in his hospital bed at Froedtert Hospital in Milwaukee. He lost parts of his arms and legs, as well as the skin of his nose and part of his upper lip from capnocytophaga.

He had so much to live for foremost, his wife of 16 years, Dawn, and 26-year-old son, Mike. He was just starting to get really good at his day job, painting houses. He cherished his Harley Davidson Electric Glide. He was in the middle of fixing up his 66 El Camino. And of course there was Ellie, the pup.

And so he persisted, through more than 20 surgeries, including amputations of his left and right arms just below the elbow, and legs through the middle of the knee.

His wife and son stayed optimistic, because he was.

Greg said he didnt come this far to lay down and let this beat him, Dawn Manteufel said.

He was out of the in-patient rehab unit in about two weeks, learning to move from his wheelchair to the bed, toilet and car. The usual stay is three to four weeks, said Dr. David Del Toro, medical director for the inpatient rehab unit at Froedtert.

Manteufel made similar quick advances using his arm prosthetics and leg prosthetics.

He does not seem like any other patient Ive met before, Del Toro said. Hes just, you know, full speed ahead.

In this Aug. 19, 2019 photo, Greg Manteufel tries out a new prosthetic arm during occupational therapy at Froedtert & the Medical College of Wisconsin, in Milwaukee, as his wife Dawn Manteufel reads paperwork in the background.

Meanwhile, researchers at Brigham and Womens Hospital in Boston, connected to Harvard Medical School, as well as Dana-Farber Cancer Institute and Beth Israel Deaconess Medical Center had been investigating cases like his.

The team has done genetic testing on five otherwise healthy people who suffered capnocytophaga infections to see if they could find anything in common. They discovered all had a gene connected to the immune system that was working differently a genetic variant.

It was a really thrilling moment, said Elizabeth Fieg, a genetic counselor at Brigham and Womens Hospital. The stakes are so high with these cases and the patients have gone through so much.

READ MORE: Owning a dog is good for your heart study says what we all knew

They believe it makes those people more susceptible to developing severe medical problems from capnocytophaga. But they are also trying to determine if there are other risk factors.

Of the five in the study, three survived with amputations and two did not. Fieg hopes their research can determine why some did not survive.

She also hopes if their theory is confirmed, it will help diagnose cases faster, and perhaps save lives and limbs.

Thats why Greg Manteufel jumped at the chance to take part when he was approached in August.

Researchers need to gather more evidence, but hope to publish their study in the next year to 18 months.

Manteufels life now includes frequent occupational therapy appointments to perfect his use of arm prosthetics the kind with metal moveable hooks at the end. Hes using a fork regularly and hes now working on picking up the TV remote, opening doorknobs, cutting vegetables and doing the dishes.

Hes using shortened leg prosthetics, called stubbies, to get his body conditioned to eventually use to full-sized ones. Those are expected to arrive any day.

Plastic surgeons plan another surgery to perfect his nose. Theyve already moved skin from his forehead there. It looks oversized now, but it will eventually fit in with the rest of his face.

He plans to get his car revamped so he can drive with prosthetics. He wants to get a special pole so he can go fishing again. He is even considering going back to work painting.

Hes also become less quiet and a lot more outgoing. Now everybody I see wants to hear something or talk to me. I tell them a 15-minute story about what happened. They probably want me to leave, you know, he said, chuckling.

Ellies often by his side.

She loves kids. She loves puppies. Other dogs, Manteufel said.

As harmless as she seems, she may have capnocytophaga germ.

In this Aug. 16, 2019 photo, Greg Manteufel takes his dog Ellie from his wife Dawn Manteufel at their home in West Bend, Wis.

The results of Manteufels genetic tests are expected in three to four months. Fieg said people with the gene variant are at increased risk for recurrent capnocytophaga or other infections in the future.

While Manteufel doesnt like the sound of that, he said Ellies accidentally scratched him since hes been home and even licked his mouth. Hes been fine.

And even if he does have the gene variant, he said, it changes nothing.

We didnt even bother testing her, said Manteufel. We werent going to get rid of her if it was her that caused it anyway.

We just love her to death.

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Genetics might explain why this mans limbs had to be amputated after his dog licked him - Global News

The proof-of-concept experiment showed data can be encoded in DNA and retrieved using automated systems, a development that may have positive significance for clinical laboratories

It may seem far-fetched, but computer scientists and research groups have worked for years to discover if it is possible to store data on Deoxyribonucleic acid (DNA). Now, Microsoft Research (MR) and the University of Washington (UW) have achieved just that, and the implications of their success could be far-reaching.

Clinical pathologists are increasingly performing genetic DNA sequencing in their medical laboratories to identify biomarkers for disease, help clinicians understand their patients risk for a specific disease, and track the progression of a disease. The ability to store data in DNA would take that to another level and could have an impact on diagnostic pathology. Pathologist familiar with DNA sequencing may find a whole new area of medical service open to them.

The MR/UW researchers recently demonstrated a fully automated system that encoded data into DNA and then recovered the information as digital data. In a simple proof-of-concept test, the team successfully encoded the word hello in snippets of fabricated DNA and converted it back to digital data using a fully automated end-to-end system, Microsoft stated in a news release.

The MR/UW team published their findings in Nature Scientific Reports.

DNAs Potential Storage Capacity and Why We Need It

Thus far, the challenge of using DNA for data storage hasbeen that there wasnt a way to easily code and retrieve the information. That,however, seems to be changing quite rapidly. Several major companies haveinvested heavily in research, with consumer offerings expected soon.

At Microsoft Research, consumer interest in genetic testing has driven the research into using DNA for data storage. As People get better access to their own DNA, why not also give them the ability to read any kind of data written in DNA? asked Doug Carmean, an Architect at Microsoft, during an interview with Wired.

Scientists are interested in using DNA for data storage becausehumanity is creating more data than ever before, and the pace is accelerating.Currently, most of that data is stored on tape, which is inexpensive, but hasdrawbacks. Tape degrades and has to be replaced every 10 years or so. But DNA,on the other hand, lasts for thousands of years!

DNA wont degrade over time like cassette tapes and CDs, and it wont become obsolete, Yaniv Erlich, PhD, Chief Science Officer at MyHeritage, an online genealogy platform located in Israel, and Associate Professor, Columbia University, told Science Mag.

Tape also takes up an enormous amount of physical space compared to DNA. One single gram of DNA can hold 215 petabytes (roughly one zettabyte) of data. Wired puts the storage capacity of DNA into perspective: Imagine formatting every movie ever made into DNA; it would be smaller than the size of a sugar cube. And it would last for 10,000 years.

Victor Zhirnov, Chief Scientist at Semiconductor Research Corporation says the worries over storage space arent simply theoretical. Todays technology is already close to the physical limits of scaling, he told Wired, which stated, Five years ago humans had produced 4.4 zettabytes of data; thats set to explode to 160 zettabytes (each year!) by 2025. Current infrastructure can handle only a fraction of the coming data deluge, which is expected to consume all the worlds microchip-grade silicon by 2040.

MIT Technology Review agrees, stating, Humanity is creating information at an unprecedented ratesome 16 zettabytes every year. And this rate is increasing. Last year, the research group IDC calculated that well be producing over 160 zettabytes every year by 2025.

Heavy Investment by Major Players

The whole concept may seem like something out of a sciencefiction story, but the fact that businesses are investing real dollars into itis evidence that DNA for data storage will likely be a reality in the nearfuture. Currently, there are a couple of barriers, but work is commencing toovercome them.

First, the cost of synthesizing DNA in a medical laboratoryfor the specific purpose of data storage must be cheaper for the solution tobecome viable. Second, the sequencing process to read the information must alsobecome less expensive. And third is the problem of how to extract the datastored in the DNA.

In a paper published in ASPLOS 16, the MR/UW scientists wrote: Today, neither the performance nor the cost of DNA synthesis and sequencing is viable for data storage purposes. However, they have historically seen exponential improvements. Their cost reductions and throughput improvements have been compared to Moores Law in Carlsons Curves Important biotechnology applications such as genomics and the development of smart drugs are expected to continue driving these improvements, eventually making data storage a viable application.

Automation appears to be the final piece of the puzzle. Currently,too much human labor is necessary for DNA to be used efficiently as datastorage.

It may take some time before DNA becomes a viable medium fordata storage. However, savvy pathology laboratory managers should be aware of,and possibly prepared for, this coming opportunity.

While its unlikely the average consumer will see muchdifference in how they save and retrieve data, medical laboratories with theability to sequence DNA may find themselves very much in demand because oftheir expertise in sequencing DNA and interpreting gene sequences.

Dava Stewart

Related Information:

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Microsoft and UW Demonstrate First Fully Automated DNA Data Storage

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Microsoft Research Develops DNA Storage - DARKDaily.com - Laboratory News

Prostate cancer grows so slowly in some men that doctors often recommend active surveillance or watchful waiting instead of more aggressive treatment. In fact, one study from the Johns Hopkins Active Surveillance Program found that less than 1% of men with low-risk prostate cancer developed metastatic disease after 15 years of active surveillance.

But if prostate cancer grows slowly, the same cant be said for research into the disease.

In fiscal year 2017 alone, the National Cancer Institute (part of the National Institutes of Health) funded 876 studies into prostate cancer, while the Prostate Cancer Foundation reports that nearly 1,000 clinical trials are exploring treatments and treatment strategies in the U.S. Some of that research will lead to improvements in prevention, detection and treatment. In fact, prostate cancer deaths have been cut in half since 1993, when the Prostate Cancer Foundation was founded. The five-year survival rate now stands at 99%.

Yet prostate cancer is still the second-deadliest cancer among American men (after lung cancer). Theres a misperception that this is a disease of old men that no one dies of, says Dr. Jonathan W. Simons, president and CEO of the Prostate Cancer Foundation. Thats wrong; a man still dies every twenty-one minutes around the clock from prostate cancer.

Since September is National Prostate Cancer Awareness Month, this is a great time to review recent developments in prevention, diagnosis and treatment.

Prostate cancer occurs when cells in the prostate, a small gland below the bladder involved in the production of sperm, begin to grow abnormally.

The first sign of the disease is often an elevated prostate-specific antigen (PSA) count in a blood test. Diagnosis and staging are confirmed through a digital rectal exam (DRE) and tissue biopsies, while genetic testing can help determine the cancers aggressiveness, an important factor in weighing treatment options.

A man still dies every twenty-one minutes around the clock from prostate cancer.

Those options include active surveillance, surgery, chemotherapy, radiation therapy and hormone therapy, each of which comes with its own set of risks and benefits. For example, surgery and radiation can affect urinary, bowel and sexual function, which is one reason active surveillance is preferable for slow-growing, localized prostate cancer.

Until recently, doctors assumed that the key risk factors for prostate cancer were age, a family history of prostate cancer and being of African-American ancestry. Today, however, researchers like Dr. Heather Cheng are looking at family history more broadly.

An associate professor of medical oncology at the University of Washington School of Medicine, Cheng says there are proven genetic links between prostate cancer in men and breast, ovarian and pancreatic cancer in their female relatives.

If there is an inherited cancer risk, that risk may manifest itself in female relatives differently than in male relatives, Cheng says.

The genetic links work both ways. When sharing their family history with their doctors, men should include information about female relatives on both sides of the family who have had cancer. And men who are diagnosed with metastatic prostate cancer should undergo genetic testing, as should their siblings and children if a mutation is discovered.

That doesnt mean a person will definitely get cancer, but it may increase their risk, Cheng says. It also provides information for them to use that risk knowledge to be proactive.

Family history can also help inform a patients decision about whether to have a PSA test. That test is no longer routinely recommended due to the potential for overtreatment, but Cheng says it becomes more important if a man has a known mutation or if theres a family history of early breast and ovarian cancer.

The most inherited cancer of a hundred and eighty seven human cancers is, in fact, prostate cancer; thats been discovered in the last two years, says Jonathan Simons of the Prostate Cancer Foundation. Whats kind of radical is that every urologist should be a genetic counselor.

While an apple a day wont necessarily keep the doctor away, eating tomatoes, guava, watermelon, pink grapefruit, tree nuts, eggplant, spinach and beets may well keep prostate cancer at bay, according to Dr. William W. Li., author of Eat to Beat Disease: The New Science of How Your Body Can Heal Itself.

Numerous studies have shown that certain foods contain natural chemicals that inhibit tumor angiogenesis (the growth of new blood vessels), Li explains. This means eating those foods can starve the cancer by cutting off the tumor blood supply. For example, a National Cancer Institute study of nearly 50,000 men found that those who ate more cooked tomatoes, which are rich in lycopene, had a 28% lower risk of developing prostate cancer.

In fact, Prostate cancer is the most sensitive cancer to a change in diet in terms of surviving longer, says Simons.

Exercise even brisk walking plays a role as well. Exercise improves immunity, which is important for preventing cancer, Li says. It also helps the body fight tumor angiogenesis, which can prevent or slow cancer growth. Exercise also improves the cardiovascular system, brain function and muscle strength all important factors for healthy aging.

The Prostate Cancer Foundation estimates that 175,000 men in the United States will be diagnosed with prostate cancer this year. Fortunately, recent advances are making it easier to detect and treat the disease, according to Dr. Sven Wenske, who practices urology at the Columbia University Irving Medical Center in New York City.

One important advance is the development of magnetic resonance imaging (MRI) fusion technology, in which MRI and ultrasound images are combined to give physicians a better picture of the prostate.

Instead of just taking random (biopsy) samples under ultrasound guidance only from the left and the right lobe (parts of the prostate), we basically target specific areas that the MRI shows us to be abnormal, Wenske says. This is a much more specific and much more accurate way to diagnose prostate cancer. Whats more, the technology can also be used during active surveillance to determine the need for additional biopsies.

In cases of metastatic prostate cancer, doctors now have more tools in their toolboxes, thanks to second-generation anti-androgens. Androgens are male hormones including testosterone, which helps cancer grow. The new anti-androgens include apalutamide, enzalutamide and darolutamide, the latter of which was approved by the Food and Drug Administration in July 2019.

These drugs really help to keep the cancer under control, Wenske says.

More drug approvals are on the horizon. In fact, Simons recommends patients keep up with the latest news on the Prostate Cancer Foundations website because some clinicians may not be aware of the latest developments.

Also on the horizon are increasingly targeted therapies that are no undergoing clinical trials. For example, researchers are testing radioactive molecules that can move through the bloodstream, searching for and destroying prostate cancer cells. These agents target prostate membrane-specific antigen, or PSMA, a protein on the surface of the cells.

Genetics may play a role here as well; a study from The Institute of Cancer Research has shown that genetic testing could help identify patients who would respond well to this therapy.

Although much of the recent news about treatments for prostate cancer has been positive, a study published in July 2019 offered a stark reminder that standard treatments can have serious side effects.

Researchers at the University of Pennsylvanias Perelman School of Medicine did a retrospective study of 154,000 prostate cancer patients and found that androgen-deprivation therapy (ADT; also called hormone therapy) was associated with a heightened risk of developing dementia and Alzheimers disease. Specifically, 13% of patients who received ADT developed Alzheimers disease, compared with 9% of patients who didnt receive the therapy, while 22% of ADT patients developed some form of dementia, versus 16% of non-ADT patients.

Those results didnt surprise Wenske, who has seen anecdotal evidence among his own patients. Unfortunately, he says, thats the only way at this time to really suppress the cancer. If they dont do that treatment, they have a risk for progression. Theres not a lot of wiggle room between choices.

Thats why its reassuring that the National Cancer Institute, the Prostate Cancer Foundation and other groups continue pouring money into research and clinical trials. Perhaps one day, negative side effects and prostate cancer itself will become distant memories.

The Prostate Cancer Foundation offers several free resources on its website, including the Prostate Cancer Patient Guide (updated for 2019) and The Science of Living Well, Beyond Cancer (published in August 2019), which explores the relationship between lifestyle choices and cancer.

Next Avenue brings you stories that are inspiring and change lives. We know that because we hear it from our readers every single day. One reader says,

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The Latest in Prostate Cancer Treatment - Next Avenue

The Preimplantation Genetic Testing Market Introduction

Preimplantation genetic testing is the process which is used prior to implantation to help identify genetic defects within embryos. This process helps to prevent certain genetic disorders that can transfer from parents to child. It involves screening single cells from embryos and performed during the process of in-vitro fertilization (IVF) prior to embryo transfer. Two main procedures are done for preimplantation genetic testing: preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS). The main application of PGD is to identify the presence of chromosomal translocations and single-gene disorders so that these embryos are not transferred and a healthy, disease free babys birth can take place. This process is also done to determine the sex of the embryo prior to the transfer into the uterus. Different techniques are used in preimplantation genetic testing such as Polymerase Chain Reaction (PCR), Next-Generation Sequencing (NGS), and Fluorescence in Situ Hybridization (FISH) for detection of disorders.

Preimplantation genetic screening (PGS) is applied technology from PGD and generally done for those people with recurrent pregnancy loss or infertility. Embryos are screened to determine the cause of miscarriage and implantation failure. Through this screening, abnormal embryos are identified so they are not transferred to the IVF cycle, to achieve successful pregnancy. PGS is done to screen an embryo for normal chromosome number or to identify loss or gain of chromosomal material.

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Preimplantation Genetic Testing Market Competitive Landscape

The global preimplantation genetic testing market is fragmented due to presence of major players. Key players operating in the global preimplantation genetic testing market include Agilent Technologies, Inc., Illumina, Inc., Abbott Laboratories, CooperSurgical, Inc., Thermo Fisher Scientific Inc., PerkinElmer Inc., Natera, Inc., Quest Diagnostics Incorporated, Genea Limited, and Vitrolife.

New product launch, partnerships, collaborations, and mergers & acquisitions are some of the key strategies adopted by these major players in developed as well as emerging economies. For instance, in January 2017, Agilent Technologies, Inc. and the Centre for Human Genetics, University of Leuven, and University Hospitals Leuven collaborated to investigate new solutions of preimplantation genetic testing.

Agilent Technologies, Inc.

Agilent Technologies, Inc. is headquartered in Santa Clara, CA, U.S. and operates in life sciences, diagnostics, and applied chemicals markets. The company was founded in 1999 and offers instruments, services, consumables, applications, and expertise to address the full range of scientific and laboratory management needs. Agilent Technologies, Inc. provides OnePGT Solution for research purposes which uses NGS technology.

Illumina, Inc.

Founded in 1998, Illumina, Inc.is based in San Diego, California, U.S. The company develops, manufactures, and markets life science tools and integrated systems for large-scale analysis of genetic variation and function. It has a global presence with over 7,300 employees globally. Illumina, Inc. offers various karyomapping products and solutions for PGD such as Infinium HumanKaryomap-12 DNA Analysis Kit and NextSeq 550 System.

The company has adopted a distribution partnership, collaboration, and alliances strategy for its PGD products. For instance, in October 2018, Illumina, Inc. and Vitrolife signed a distribution agreement. This agreement provided exclusive development, distribution, and commercialization rights to Vitrolife for Illumina, Incs. Preimplantation genetic testing business for IVF in the Americas and EMEA.

Abbott Laboratories

Established in 1888, Abbott Laboratories is headquartered in Chicago, Illinois, U.S. Abbott Laboratories is a major healthcare company which offers healthcare products and solutions such as diagnostics, medical devices, nutritionals, and branded generic medicines. The company serves more than 160 countries. Its PGD products and solutions comes under the genetics and genomics product division.

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CooperSurgical, Inc.

Founded in 1990, CooperSurgical, Inc. is based in Trumbull, Connecticut, U.S. The company has a diversified product portfolio of more than 600 products. It operates through two business segments: CooperSurgical medical devices and CooperSurgical Fertility & genomic solutions. The company offers PGT-A, PGT-M, and PGT-SR, which are major test solutions for PGD and PGS.

Preimplantation Genetic Testing Market- Dynamics

Rise in number of cases of child birth with genetic disorders and declining fertility rate globally to drive the global preimplantation genetic testing market

Increasing incidence of child birth with genetic disorders such as cystic fibrosis, Huntingtons disease, Down syndrome, and Turner syndrome due to chromosomal abnormalities, single gene defects, and other reasons is being seen. Rise in conditions of genetic disorders & abnormalities is attributed to growth of global preimplantation genetic testing market. For instance, as per CDC, around 6,000 babies are born with Down syndrome in the U.S. every year. According to the same report, between1979 to 2003, and the number of babies born with Down syndrome increased by about 30% in the U.S. Moreover, fertility rate among the current population is declining in recent years due to lifestyle changes which is propelling the need for PGS and hence the preimplantation genetic testing market is slated to grow globally.

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Higher risk of chromosomal abnormalities associated with advancing maternal age and more IVF procedures coupled with rise in number of fertility clinics, major growth drivers of the market

The risk of chromosomal abnormality increases with maternal age. A baby born to an older woman has higher risk of being born with some type of chromosomal abnormality & defect. According to an article published by Stanford Children's Health, U.S., the chance of having a child affected by Down syndrome rises from around 1 in 1,250 for a woman who conceives at the age of 25 years, to about 1 in 100 for a woman who conceives at the age of 40 years. Also, rise in number of fertility clinics and IVF procedures worldwide is propelling the growth of the global preimplantation genetic testing market.

Higher procedural cost and certain regulatory norms restraining the market growth

Factors such as higher cost associated with PGD & PGS and certain strict regulatory norms are likely to hamper the growth of the global preimplantation genetic testing market. Preimplantation genetic testing is a complex procedure that entails a lot of laboratory work; hence, the cost can be significant and high for the entire procedure. Also, non-medical use of PGD and PGS raises the government regulatory norms in certain countries. These strict rules are likely to hamper the growth of the global preimplantation genetic testing market.

North America preimplantation genetic testing Market Major Market

North America dominated the global preimplantation genetic testing market in 2018. It is projected to maintain its position during the forecast period. Higher infertility rate, more number of IVF cycles, presence of major players in the region, and adoption of highly advanced technologies for genomics are some of the major factors responsible for the dominance of this region in the global market. For instance, according to CDC data, between 2011 to 2015, 6.7% of married women aged 15-44 years were facing infertility problems in the U.S.

Preimplantation Genetic Testing Market Segmentation

The global market can be segmented on the basis of: Procedure Type Product & services Technology Application End-user Region

Preimplantation Genetic Testing Market Segmentation By Procedure Type

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Based on procedure type, the market can be segmented into: Preimplantation Genetic Diagnosis Preimplantation Genetic Screening

Preimplantation Genetic Testing Market Segmentation By Product & Services

In terms of product & services, the market can be divided into: Reagents & Consumables Instruments Softwares & Services

Preimplantation Genetic Testing Market Segmentation By Technology

On the basis of technology, the market can be classified into: Polymerase Chain Reaction(PCR) Next-Generation Sequencing(NGS) Fluorescence in Situ Hybridization(FISH) Others

Preimplantation Genetic Testing Market Segmentation By Application

Depending on application, the market can be segmented into: Aneuploidy Single Gene Disorders Structural Chromosomal Abnormalities Gender Identification HLA Typing Others

Structural Chromosomal Abnormalities segment is further sub segmented into- Inversions Translocations Deletions Duplications

Preimplantation Genetic Testing Market Segmentation By End-user

Based on end-user, the market can be divided into: Hospitals, Diagnostic Labs & Service Providers Maternity & Fertility Centers Research Laboratories & Academic Institutes

The report offers a comprehensive evaluation of the market. It does so via in-depth qualitative insights, historical data, and verifiable projections about market size. The projections featured in the report have been derived using proven research methodologies and assumptions. By doing so, the research report serves as a repository of analysis and information for every facet of the market, including but not limited to: Regional markets, technology, types, and applications.

The study is a source of reliable data on: Market segments and sub-segments Market trends and dynamics Supply and demand Market size Current trends/opportunities/challenges Competitive landscape Technological breakthroughs Value chain and stakeholder analysis

The regional analysis covers: North America (U.S. and Canada) Latin America (Mexico, Brazil, Peru, Chile, and others) Western Europe (Germany, U.K., France, Spain, Italy, Nordic countries, Belgium, Netherlands, and Luxembourg) Eastern Europe (Poland and Russia) Asia Pacific (China, India, Japan, ASEAN, Australia, and New Zealand) Middle East and Africa (GCC, Southern Africa, and North Africa)

The report has been compiled through extensive primary research (through interviews, surveys, and observations of seasoned analysts) and secondary research (which entails reputable paid sources, trade journals, and industry body databases). The report also features a complete qualitative and quantitative assessment by analyzing data gathered from industry analysts and market participants across key points in the industrys value chain.

A separate analysis of prevailing trends in the parent market, macro- and micro-economic indicators, and regulations and mandates is included under the purview of the study. By doing so, the report projects the attractiveness of each major segment over the forecast period.

Highlights of the report: A complete backdrop analysis, which includes an assessment of the parent market Important changes in market dynamics Market segmentation up to the second or third level Historical, current, and projected size of the market from the standpoint of both value and volume Reporting and evaluation of recent industry developments Market shares and strategies of key players Emerging niche segments and regional markets An objective assessment of the trajectory of the market Recommendations to companies for strengthening their foothold in the market

Note:Although care has been taken to maintain the highest levels of accuracy in TMRs reports, recent market/vendor-specific changes may take time to reflect in the analysis.

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Preimplantation Genetic Testing Market Opportunity Analysis and Industry Forecast up to 2027 - Rapid News Network