Archive for the ‘Genetic Testing’ Category

A recent Peer Exchange series from The American Journal of Managed Care brought together a panel of experts to discuss spinal muscular atrophy (SMA), including its clinical presentation, diagnosis of its various types, and the potential of new disease-modifying treatments. The panel was moderated by Peter L. Salgo, MD.

SMA is not a common disease, and Salgo admitted he was unaware of it until he began preparing to moderate the series, but it is actually the most common genetic cause of infant death, according to John Brandsema, MD.1 This neurodegenerative disorder most commonly presents in infants with symptoms of limb weakness. In the most severe form of the disease, SMA type 1, which has the earliest onset, symptoms include impaired respiratory function.

The most common thing would be in an infant, hypotonia and a little bit of floppiness, which can be part of normal spectrum of development in some kids. Most primary specialists might think of something like instituting some physical therapy for a couple of months and seeing whether that helps the patient, Brandsema explained. But in SMA type 1, that is an eternity because theyre going to get worse during that time and start to show problems with their breathing and their feeding.1

To confirm suspected SMA, clinicians perform genetic testing to search for double deletion of the SMN1 gene, which causes the SMN protein deficiency that leads to the symptoms of motor neuron loss and weakness.2

The type of diagnostic scale used to assess the severity of SMA depends on a patients age, Brandsema said.2 Young infants with type 1 SMA will often undergo the Childrens Hospital of Philadelphia Infant Test of Neuromuscular Disorders and the Hammersmith Infant Neurological Exam, whereas slightly older patients with type 2 or type 3 disease would be measured with the Hammersmith Functional Motor Scale.

Youre really trying to find the right test thats going to measure the patients function in the moment and also how theyre changingwhich, in the natural history, would be loss over time on these scales of points or function, Brandsema said. But with these new disease-modifying therapies, it may in fact be improvement.2

The new targeted gene therapies that Brandsema referenced have produced significant therapeutic impact and changed the landscape of SMA treatment, but insurance coverage can determine patients access. Payers are not sure how long the benefits of treatment will last, which makes it difficult for them to determine the value of these treatments, according to Surya Singh, MD.

People usually think about longevity in terms of the patient, Singh explained. But here, as were just about on the cusp of sort of viral delivered gene therapythe question becomes, does this method for producing the protein that we want continue to work? Or does the body find some way to be able to decrease those levels? And what happens then? Does it require a boost?3

Although these questions have yet to be answered, the panelists agreed that the therapeutic developments have given hope to families who previously had none.

Im excited, and I am proud to be in a profession that has done this for people and is continuing to do this for peopleand that includes insurance, Salgo concluded. Everybody has got a piece of this, and its all going the right way.4

References

1. Spinal muscular atrophy (SMA) and types of SMA. The American Journal of Managed Care website. ajmc.com/peer-exchange/rare-neurological-diseases/spinal-muscular-atrophy-sma-and-types-of-sma. Published July 8, 2019. Accessed August 20, 2019.

2. Diagnostic tests and scales of SMA. The American Journal of Managed Care website. ajmc.com/peer-exchange/rare-neurological-diseases/diagnostic-tests-and-scales-of-sma. Published July 22, 2019. Accessed August 20, 2019.

3. Payer perspective and value of treatment of SMA. The American Journal of Managed Care website. ajmc.com/peer-exchange/rare-neurological-diseases/segment-title-payer-perspective-and-value-of-treatment-of-sma. Published August 12, 2019. Accessed August 20, 2019.

4. Risdiplam and final thoughts. The American Journal of Managed Care website. ajmc.com/peer-exchange/rare-neurological-diseases/risdiplam-and-final-thoughts. Published August 19, 2019. Accessed August 20, 2019.

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Experts Discuss Symptoms, Types, and Treatments of SMA - AJMC.com Managed Markets Network

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RocheThermo Fisher ScientificPerkinElmerQuest DiagnosticsMyriad GeneticsIverson GeneticsCancer GeneticsOncoCyte CorporationNeoGenomicsInvitae

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Explore Detailed Report @: https://www.vertexmarketinsights.com/report/13489/global-breast-cancer-predictive-genetic-testing-market-research-report-2019-by-manufacturers-regions-types-and-applications/#table-of-contents

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Global Breast Cancer Predictive Genetic Testing Market Size and CAGR Forecast by Type, Application, Region (2019-2024) - SocioHerald

By George Lorenzo, Next Avenue Contributor

Getty

The progression and symptoms of early-onset Alzheimer's Disease, typically identified in patients in their 40s or 50s, can vary dramatically depending on the individual. According to the Alzheimers Association, getting an accurate diagnosis of early-onset Alzheimer's can be a long and frustrating process. Symptoms may be incorrectly attributed to stress or there may be conflicting diagnoses from different health care professionals.

The Alzheimers Drug Discovery Foundation (ADDF) is working to eliminate such conflicts through its $50 million Diagnostics Accelerator program. It's aimed at supporting the development of novel biomarkers" for the early detection of Alzheimer's and related dementias.

We want to accelerate the science, says Dr. Howard Fillit, founding executive director and chief science officer of ADDF. That means providing funding to support innovative research to quicken the process of developing and implementing clinical trials required for regulatory approval of Alzheimer's diagnostic tools and programs.

The onset of Alzheimer's, in general, is currently diagnosed through: mental and neuropsychological tests performed by primary care doctors and/or neurologists, along with a review of a patients medical history; genetic testing that identifies the APOE e4 gene associated with early-onset Alzheimer's; a PET scan or invasive spinal tap that may reveal the presence of amyloid plaques and/or tau tangles in the brain and a CT or MRI that can identify vascular dementia.

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All of these solutions are relatively expensive (excluding mental testing), time-consuming, challenging to take advantage of, and, in some cases, not administered properly nor proven to yield 100% valid results in diagnosing Alzheimer's.

We must now develop inexpensive and noninvasive biomarkers, preferably blood tests, that will help diagnose Alzheimers disease and track the effectiveness of treatments, wrote Fillit in a recent article published in Scientific American.

DDFs first round of award recipients, announced on May 30, 2019, allocated approximately $3.5 million to two Alzheimer's diagnosis blood tests and two retinal imaging R & D programs. The four Saliha Mussaoui, Amoneta Diagnostics, based in France; Kaj Blennow, University of Gothenberg, Sweden; Tom MacGillivray, University of Edinburgh, Scotland andPeter van Wijngaarden, the Centre for Eye Research in Australia were chosen out of 300 applicants from 30 countries.

Creating a Blood Test to Identify Early-Onset Alzheimer's

Amoneta is an affiliate of Firalis, a life sciences biotechnology company created by Dr. Huseyin Firat. Since 2014, Amoneta has conducted research and development for ultimately creating a valid blood test that can identify mild cognitive impairment (MCI) and early-onset Alzheimer's.

The test, called MemoryLINC, is based on finding difficult-to-monitor and characterize lncRNAs (long noncoding ribonucleic acids) in blood panels. These lncRNAs regulate gene expression and diverse biological functions. It is increasingly recognized that lncRNAs is tightly related to the pathogenesis and prevention and cure of AD (Alzheimer's Disease), notes a January 2019 study published in Pathology - Research & Practice.

Fillit says Amoneta has data indicating that certain RNAs are elevated in blood samples of people with Alzheimer's that are relevant to learning and memory and the disease itself.

The MemoryLINC Project has reached its final clinical validation phase comprised of 800 subjects at 13 European clinical sites in France, Switzerland, Belgium and Turkey. Firat says the MemoryLINC study is the most important clinical study ever done in this domain.

Tau-related Research

The ADDF funding for Blennows project intends to develop brain-specific, tau-related blood tests to identify and monitor neurodegeneration. Tau is a protein contained in nerve cells. It resides in cerebrospinal fluid in the brain and spinal cord and can be gauged through an invasive and highly uncomfortable spinal tap.The aggregation and collapse of tau into tangles that elevate and spread throughout the brain is symptomatic of Alzheimer's.

Measuring tau in blood can be very useful, Fillit explains. But the problem is that tau is present in the blood in such low quantities as it relates to [Alzheimer's] that, so far, we havent been able to measure it effectively. Blennow, however, has discovered how to measure brain-specific tau fragments in blood.

Over the next two years, Blennows team will evaluate the presence of different levels of tau in blood samples. Many of these samples will be identified from a Swedish BioFINDER cohort at Lund University, which includes 600 cognitively healthy individuals, 500 patients with subjective cognitive dysfunction or mild cognitive impairment, and 100 patients with Alzheimer's.

This is an exploratory project aiming to develop a novel analytical method to establish robust blood biomarkers for tau, Blennow explains.

The other two ADDF-funded awardees are conducting research on imaging techniques and processes that can identify the possible unhealthy accumulation of amyloid plaques behind the retina, which is another symptom of Alzheimer's. The Alzheimers Associations 2019 Alzheimers Disease Facts and Figures report noted that recent research has shown that the accumulation of amyloid in the brain were significantly increased starting 22 years before symptoms were expected to develop.

In addition to focusing on amyloid buildup, MacGillivrays project is looking closely at vascular changes in the small blood vessels in the back of the retina, both of which can be seen with Optical Coherence Tomography (OCT) machines that are commonly utilized by ophthalmologists.

MacGillivray says the health of small blood vessels is an increasingly recognized component of dementia and Alzheimer's. We think we see differences in how wide or how narrow these blood vessels are, and also the number of blood vessels that fill the tissue space," he notes.

We are seeing potentially a dying lack of blood vessels or a less optimum range of blood vessels delivering oxygen and nutrients to vascular tissue, and this is then replicated in the brain," says MacGillivray. "We have a quick and non-invasive way to see if blood vessels are changing [by utilizing relatively inexpensive OCT imagery scans] and degrading in a detrimental way inside the brain without having to go through expensive techniques such as MRIs and PETS.

Imagine a world where people who may have memory problems are referred by their primary care doctor to the ophthalmologist around the corner, Fillit says. The ophthalmologist uses the OCT machine to see if there is an amyloid plaque buildup in the back of the eye. It could tell you whether a person is "cooking" Alzheimer's or not, notes Fillit.

These same principles apply to Wijngaardens project, but with different mechanisms and equipment. This one also deals with looking behind the retina for amyloid plaques, but utilizes a sophisticated camera technology, called hyperspectral imaging. That technology can capture images behind the retina revealing different colors of light that correlate to early-onset Alzheimer's based on amyloid plaque buildup.

We can get a wealth of information about the structure of the back of the eye, Wijngaarden says.

To support his research and ultimately incorporate it into everyday clinical practice, Wijngaarden has developed a low-cost portable camera for hyperspectral imaging of the retina. It's being tested for use in routine eye exams where the camera will identify amyloid plaque buildup years before a patient might show signs of cognitive decline.

The Future

What we want to do with the digital accelerator is advance these technologies, measuring things like function, cognition and a whole variety of other variables, Fillit says.

How long will it take for such innovative technologies to possibly get government approval through clinical trials and validation and ultimately reach patients at their next doctor visit? Amoneta estimates that its blood test could be launched for use in clinics in the U.S. and Europe by 2021. The three other awardees all agree that it should take three to five years for their technologies to possibly become common practice in clinics.

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Detecting Early Onset Alzheimers Disease In Innovative Ways - Forbes

Chef Avi Shemtov helps spread the word about BRCA gene mutations with a free dinner

SHARON Eliza Danielson and Jordana Phillips sat at a table for two, excitedly discussing the night's events. But instead of speculating about the chef's tasting menu they were about to be served, Phillips, a radiologist from New York City, was stressing the importance of BRCA mutation testing to Danielson.

I understand that, sometimes, testing for gene mutations can cause anxieties, but this is not one of those times, Phillips said. Danielson agreed to get tested, admitting that she hadnt known about the breast cancer mutation or how dangerous it could be.

Chef Avi Shemtov said this type of conversation is exactly why he held a free dinner last week at Simcha, a Sharon restaurant where Shemtov serves Israeli and Turkish cuisine with New England influences. On Thursday he hosted Nadine Tung, an oncologist specializing in breast cancer, to talk about an ongoing study that includes free genetic testing that helps men and women who are Ashkanazi Jews find out whether they have the mutation, which could significantly increase their chances of getting cancer.

Simcha was filled with predominantly women on Thursday night, with just one man accompanying his wife to the lecture in the packed restaurant. Tung said that she had expected as much because BRCA gene is an abbreviation for breast cancer gene, but that didn't mean that men couldn't be affected by it. A mutation in BRCA 1 raises a woman's chance of getting breast cancer to 87 percent and a mutation in BRCA 2 can cause an extremely aggressive and life-threatening type of prostate cancer in men.

Thursday's free meal at Simcha targeted the area's Jewish population because the mutation Tung is studying is most common among Ashkanazi Jews. Tung said Ashkanazi Jews have a one in 40 chance of having a mutation to the BRCA genes, which is 10 times higher than the general population. Sephardic Jews do not have a higher risk for mutation.

We all inherited some bad genes that put us at risk, said Tung, an Ashkanazi Jew herself. She said that she firmly believed in testing for genetic mutations, even if it can be scary. The information is something you can learn from and take preventative measures.

While Tung spoke, servers brought out plates of wood-oven baked pita and hummus, beets roasted in cast-iron skillets and topped with an Israeli blend of nuts and seeds, and confit chicken wings tossed in sweet and spicy paprika. The food is a reflection of Shemtovs culture, Sephardic food that has an emphasis on Israeli and Turkish cuisine. Shemtovs fathers family moved to Israel from Turkey to escape oppression. There, they met neighbors who had come from all over the world. This influenced Shemtovs grandparents cooking, and ultimately his father and his own cooking for their restaurants.

The major difference between Sephardic and Ashkanazi Jews is their cultural ancestry, Tung said. Sephardic Jews come initially from Spain and traveled to the Middle East and Israel from the Mediterranean Sea. Ashkanazi Jews are from Eastern Europe, Poland and Russia and make up approximately 95 percent of the Jewish population in America.

Shemtov said that even though he is a Sephardic Jew, he felt it was important to help spread information that could help the majority of the American Jewish population. To him, cancer screening is personal, though it is his mother, who converted to Judaism when she married his father, whose family has a greater history a history of cancer.

Shemtov said his mother's father died when she was 12, leaving behind several children. Since becoming a father, Shemtov said he felt he owed it to his children to be tested as frequently as possible for cancer, and he felt others owed it to their families to be tested, as well. When he was approached to host this event, he said he felt compelled to help. Shemtov said that, to him, this event and educating people about BRCA mutations is a way to help others.

If we can identify the gene (mutations) and we can detect cancer, why wouldnt I help spread the word? Shemtov said. He said it was important to him to not just use his restaurant and status as a chef to talk about food.

At one point in the night, Tung announced to the full restaurant that she hoped everyone would spread the word about the BRCA gene mutations to their friends, and also spread the word about how amazing Simchas food was. Shemtov laughed and told people to focus on the gene more, and less about the food.

Burgers, pita, pizza and falafel wont change the world, but it can give me a platform to help others, Shemtov said.

As Tung took questions from the audience, Shemtov leaned against the bar. He was smiling as he looked out at everyone talking. When asked what was on his mind, Shemtov took a second to look over at his mother and sister sitting at the bar before answering.

Whats one free dinner going to cost me if it ends up saving someones life? he said. "If one person out of everyone in this room finds out they have the mutation, then it's completely worth it."

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Sharon chef stresses importance of genetic testing - The Patriot Ledger

Wolters Kluwer Tax & Accounting explores expansion of the definition of qualified medical expenses

Wolters Kluwer Tax & Accounting:

What: In recent years when presented with the opportunity, the Internal Revenue Service (IRS) has identified a number of expenses as qualifying medical expenses for purposes of the itemized deduction for medical expenses or for qualified distributions from health savings accounts or flexible spending accounts. These have included smoking cessation programs, weight loss programs, and gluten-free products for celiac disease. Now, in a private letter ruling, the IRS has spelled out the circumstances under which genetic testing might qualify as a medical expense.

Why: While private letter rulings cannot be relied upon by taxpayers other than the taxpayer to whom it was issued, the ruling on genetic testing does indicate the IRS thinking on the matter and how they might treat similar situations:

Who: Federal tax expert Mark Luscombe, JD, LL.M, CPA, Principal Federal Tax Analyst at Wolters Kluwer Tax & Accounting, is available to discuss these developments with respect to genetic testing and qualified medical expenses in general.

PLEASE NOTE: The content of this article is designed to provide accurate and authoritative information in regard to the subject matter covered. The information is provided with the understanding that Wolters Kluwer Tax & Accounting is not engaged in rendering legal, accounting, or other professional services.

Contact: To arrange interviews with Mark Luscombe, other federal and state tax experts from Wolters Kluwer Tax & Accounting on this or any other tax-related topic, please contact:

MARISA WESTCOTT 212-771-0853 marisa.westcott@wolterskluwer.com

View source version on businesswire.com: https://www.businesswire.com/news/home/20190919005224/en/

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MEDIA ALERT: IRS Approves Medical Expense Deduction for Genetic Testing - Yahoo Finance

Harmfulmutations in the BRCA1 and BRCA2 genes (BRCA1/2) are correlated with increased risk fordeveloping peritoneal, fallopian tube, ovarian, male and female breast,pancreatic, and aggressive prostate cancers. The United States PreventiveServices Task Force (USPSTF) recently updated their recommendations for riskassessment, genetic counseling, and genetic testing for BRCA1/2-relatedcancers from their 2013 recommendation.1

Breastcancer is the most common cancer following nonmelanoma skin cancer in women inthe United States, and it is the second leading cause of cancer death. BRCA1/2mutations occur in approximately 1 in 300 to 500 women, and these mutationsaccount for 5% to 10% of cases of breast cancer and 15% of cases of ovariancancer.1

New Inclusions

In its 2019 recommendation, the USPSTF recommends evaluating women who have a personal or family history of peritoneal, fallopian tube, ovarian, or breast cancer or who have ancestry with harmful mutations in the BRCA1/2 genes with a familial-risk assessment tool. Patients who receive a positive result on the risk-assessment tool should receive genetic counseling and genetic testing if indicated.1

Forwomen without a personal or family history of these cancers or a family historyof harmful BRCA1/2 mutations,the USPSTF recommends against routine risk assessment, genetic counseling, andgenetic testing.1

Nursenavigators are likely to play an important role in facilitating thorough,in-depth conversations with patients about routine assessment, geneticcounseling, and genetic testing. In fact, a 2015 study on efficiency inidentifying cancer patients who should undergo genetic and genomic testing indicatednurse navigators were particularly well positioned in the continuum of cancercare to facilitate timely testing in compliance with recommendations from theNational Comprehensive Cancer Network.2

Support for the Updates

Toupdate their recommendations, the USPSTF evaluated evidence on risk assessment,genetic counseling, and genetic testing for BRCA1/2 mutations in women without symptoms who had never beendiagnosed with a BRCA-related cancer and in women with a prior diagnosisof peritoneal, fallopian tube, ovarian, or breast cancer. Recommendationsindicated a moderate (grade B) benefit to assessment, genetic counseling, andgenetic testing in women with a family or personal history that correlated withincreased risk for peritoneal, fallopian tube, ovarian, or breast cancer or whohave family with harmful BRCA1/2mutations. For women without such personal or family history of cancer or BRCA1/2 mutations, the USPSTF gave a gradeD recommendation, discouraging the service from being used.1

Agrade of B means the USPSTF recommends the service offered as having highcertainty that the net benefit is moderate, or there is moderate certainty thatthe net benefit is moderate to substantial. A grade of D means the USPSTFdiscourages the use of the service as having moderate or high certainty thatthe service has no net benefit or that the harms outweigh the benefits.1

Notably,this updated recommendation now includes women with a previous history ofbreast or ovarian cancer who are considered cancer-free and includes ancestryas a risk factor. A perspective piece contextualizing the USPSTF recommendationalso noted that importantly, but not included in this recommendation, BRCA1/2status is relevant for patients with newly diagnosed early stage breast cancerfor surgical decision making and can also be used to determine appropriatetreatment of certain advanced cancers.3

Althoughthe authors of this perspective emphasized the importance of expanding theUSPSTF recommendation, they also lauded the clear recommendation of identifyingpatients with deleterious BRCA1/2mutations as potentially lifesaving and should be a part of routine medicalcare.3

Originally posted here:
USPSTF Expands Criteria for Recommended BRCA-Associated Genetic Counseling - Oncology Nurse Advisor

Previous studies have shown that the standard test for prostate cancer (prostate-specific antigen or PSA) would not work as a screening tool for the general population as it is not reliable enough.

But the new study found PSA tests were more likely to pick out more serious forms of prostate cancer in men who carry the BRCA2 gene fault than in non-carriers.

This means men with the faulty gene could benefit from regular PSA testing.

The study - published in the journal European Urology - included data for 902 BRCA2 carriers and 497 BRCA2 non-carriers.

All men were offered a yearly PSA test for three years and those with elevated PSA reading were offered a biopsy to confirm whether they had cancer.

The researchers found that men who carry the BRCA2 gene fault were almost twice as likely to be diagnosed with prostate cancer as non-carriers.

Those with the BRCA2 gene fault also had more serious tumours - with 77 per cent of men having clinically significant disease compared with 40 per cent of non-carriers.

Men with the fault were also diagnosed at a younger age - at an average of 61 compared with 64 for non-carriers.

Experts estimate that about one in 300 white men could be carrying the genetic fault, but not all of them will develop prostate cancer.

Study leader Rosalind Eeles, professor of oncogenetics at the Institute of Cancer Research, London, said: "For women who undergo genetic testing, options are available to them if they carry a BRCA fault, including preventative surgery and increased screening.

"But there's no prevention pathway in place if men decide to find out if they're a carrier, which is why our research is so important.

Read more here:
Men with 'Angelina Jolie gene' at double the risk of prostate cancer - Telegraph.co.uk

I have two 23 & Me DNA test kits collecting dust on a shelf in my linen closet. The idea of spitting in a vial and possibly finding out that I have some life-threatening condition lurking in my DNA just waiting to make its fatal appearance freaks me out. I know my thinking is extreme, that there are incredible benefits to knowing your health risks before symptoms show, but I cant control my concerns. Sure, I could opt out of the health results and just learn my ancestry, but I already know my test will come back that I am at least 99 percent Ashkenazi Jewishboth sides of my family emigrated from neighboring towns on the Russia-Poland border. My husbands triplet brothers had the same ancestry results on their DNA tests so there will be no fun surprises for him either. Thats why his test still remains sealed next to mine.

But last month I did end up spitting into a DNA kits vial (they require a ton of spit, by the way!), however it wasnt to learn about my familys history or my health future. I decided to do screening through a saliva sample to determine if I am a genetic carrier for any conditions that I may pass down to my future children.

When my husband and I got married almost a year ago, I knew genetic screening was something we would do ahead of trying to get pregnant. If you are a carrier of a condition and your husband is not, your child is not at risk for the condition. However, if both you and your partner are carriers of the same condition, the odds go up to 25 percent for each pregnancy (are you getting flashbacks of Punnett squares from biology class yet?). Since both my husband and I have Ashkenazi Jewish ancestry, we are two times as likely to be carriers of fatal genetic conditions like Tay-Sachs or Fragile X syndrome. So why wouldnt we do a test that can help us ensure the health of our future children?

As an editor for Parents.com, I know that most children born with genetic conditions have no family history of the disorder. I read and report on parents raising children with life-threatening genetic conditions they were not anticipating during pregnancy. Some know their childs diagnosis at birth and set up GoFundMe pages to tackle the healthcare bills that pile up. Other parents know in their gut that something is wrong, but then it takes years for a doctor to track the genetic mutation causing the issues. I want to give my future children the best opportunity to have a happy, healthy life. If that means I need to spit in a vial to find out their risk for a scary condition and make hard decisions when I get the results, that is exactly what I am going to do.

My first step was to call my OB-GYN to make an appointment for blood work. It turns out that genetic screening before pregnancy is considered optional by many insurance providers, despite my familys ancestry and risk, so testing could cost thousands of dollars out of pocket. No thanks! I started Googling other options. Thats how I came across JScreen, a genetic screening saliva test that screens your risk for more than 200 diseases that are predominant in the Jewish community. The not-for-profit program is based out of Emory University and tests samples in a CLIA-certified lab (so I knew it was legit) and is funded by several Jewish organizations so each kit only costs $149 whether your insurance covers testing or not. To order a test, I had to provide my doctors information so she can sign off and receive the results (they are shared through a HIPPA-compliant database), and thats it. While you dont have to be Jewish to order a JScreen kit, there are other at-home genetic screening kits available on the market, including Invitae, which is ordered through a similar process with your doctor and costs $250. For me, JScreen made the most sense.

Taking the JScreen test was easy (minus the more than 10 minutes it took to fill the vialthe instructions even offered suggestions on how to produce more spit like biting your tongue or cheeksinformation I never thought I'd need), but I admit, I was nervous to find out my results. Its easy to casually say I know exactly what I would do if it turns out Im a carrier for something horrible, but when it comes down to it, its a hard reality to face. But I was glad I chose to work with JScreen since they gave me my results on a call with a genetic counselor rather than in an email Id have to read and analyze on my own. During my results call I had a bunch of questions for my assigned counselor, Melanie Hardy, MS, MS, LCGC, the assistant director of genetic counseling services at JScreen (I am a journalist after all!). She told me that many couples who both test positive for carrying a condition find that the condition in question is mild and/or treatable.

Julia Wilkinson, the reproductive health genetic counselor at Invitae, also shared that its uncommon for both partners to carry variants in the same gene. More than 95 percent of couples tested in our lab find that even if one partner has a potentially concerning mutation, the other doesnt, so their overall risk of having a child with a genetic disorder is low.

Thats good to hear, but it led to my next big question: But what happens if I do carry something serious? For me, the next step would be to have my husband take a test as well, then we would have to consider our options

Hardy then told me that even if a couple learns they are carriers of a more severe condition, there are options for having a healthy child. The news may be surprising at first, but once they find that they have the support of the JScreen genetic counselors who will answer their questions and provide information and resources, they are then equipped with what they need to have a healthy family, she says. She explained the five options that couples have when they find out they are at an increased risk to having a child with a genetic condition:

1) In vitro fertilization with preimplantation genetic testing (PGT) of the embryo. To break it down simply, Hardy says that this process combines sperm and egg outside the womb, then the lab grows embryos and removes some cells from the embryos to complete genetic testing. Only those embryos that do not have the genetic condition get implanted.

2) Use of an egg or sperm donor (the egg or sperm donor will have been tested for the condition and found not to be a carrier).

3) Prenatal testing of the placenta (chorionic villus sampling or CVS) or amniotic fluid (amniocentesis) during pregnancy. This option comes with the caveat that the couple would have two decisions if the baby is found to be affected with the genetic condition: proceed with that information or end the pregnancy.

4) Adoption.

5) Test the child for the condition after birth and treat as needed or as available if the child has the genetic condition.

One common word kept coming up in my conversation with genetic counselors from JScreen and Invitae. Both called the testing process empowering." And I totally agree. We all do so many things before and during pregnancy to ensure the health of our future children: take prenatal vitamins, eat healthy food, stop drinking alcohol, go to routine doctor appointments; so why would we not do a checkup for our future babys genes too?

We cant determine if there is a reproductive risk without testing and avoiding testing doesnt prevent the possibility for devastating news about a child being affected, says Hardy. It is only with testing, preparation, and guidance that couples can make decisions to ensure a healthy family.

Continued here:
Why I Decided to Do Genetic Screening Before Trying to Get Pregnant - Yahoo Lifestyle

Preimplantation genetic testing or preimplantation genetic diagnosis is a technique in which the embryos prepared through in vitro fertilization are tested for defects before implantation. Preimplantation genetic testing enables physicians and to identify the defects present in the embryos and selectively implant healthy embryos in the uterus which increases the chances of delivering a genetically healthy baby. Preimplantation genetic testing helps people to avoid the hereditary disorders that prevail in the family to be carried into the baby. The preimplantation techniques involve various steps like the collection of eggs from the mother or egg donor which are later in vitro fertilized. Fertilized eggs are then tested for various genetic conditions through screening processes. Healthy embryos may be frozen and stored for further use whereas unfit embryos are destroyed. The healthy embryos are implanted to induce pregnancy. Preimplantation genetic testing also serves another purpose like gender selection. However, this application is currently facing several ethical questions. The preimplantation genetic testing is currently is gaining popularity as a fertility treatment option among carriers of sex-linked genetic disorders, single gene donors, people suffering from chromosomal disorders, older women seeking pregnancy and among women who experience recurring abortions.

Preimplantation Genetic Testing Market: Drivers & Restrains

Increasing awareness about preimplantation genetic testing among people suffering from genetic disorders is expected to drive demand for preimplantation genetic testing procedures According to the Global Genes Organization a non profit organization aimed towards promoting needs of the rare diseases community, there are nearly 7000 distinct rare diseases and genetic or rare diseases affect nearly 350 million people globally. Moreover according to the National Institutes of Health (NIH), about 50% people affected by rare diseases are children. Growing number of people suffering from genetic diseases are expected to increase demand for preimplantation genetic testing procedures in order to have a healthy child. Owing to high pregnancy chances with preimplantation genetic testing procedure as compared to other fertility treatments the demand for PGI testing is expected to witness high demand among people seeking IVF treatments. Increasing applications for preimplantation genetic testing for diagnosis of diseases like cancer and other minor disabilities like deafness is expected to create high growth opportunities for preimplantation genetic testing market stakeholders. Even though the preimplantation genetic testing market promises a health growth, restraints like the ethical issues related to preimplantation genetic testing and stringent regulatory policies may hamper the revenue growth of the market. Socio economic concerns related to sex determination and sex discrimination of the embryo are rising issues that might restraint the development of technology in preimplantation genetic testing market.

Preimplantation Genetic Testing Market: Segmentation

The global preimplantation genetic testing market is segmented into following key segments: by application type, by product type, by end users and by geography

Segmentation by application type

Aneuploidy Screening

Gender Screening

Chromosomal Aberration Screening

HLA Typing

Single Gene Disorder Screening

Others

Segmentation by product type

Instruments

Reagents

Analyzer Software

Accessories & Consumables

Segmentation by end user

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Hospitals

Diagnostic Laboratories

Academic Institutions

Fertility Clinics & Maternity Centers

Preimplantation Genetic Testing Market: Overview

The global preimplantation genetic testing market is expected to witness high growth over the forecast period owing to the increasing number of people seeking IVF treatment for fertility related problems and increasing awareness of preimplantation genetic testing being for avoiding birth defects among babies. Increasing adoption of preimplantation genetic testing in the developed and emerging countries is expected to create healthy growth opportunities for the market participants in the global preimplantation genetic testing market

Preimplantation Genetic Testing Market: Region wise Outlook

Geographically the global preimplantation genetic testing market is segmented into seven key regions: North America, Latin America, Western Europe, Eastern Europe, Asia Pacific excluding Japan (APEJ), Japan and Middle East and Africa (MEA).

Geographically North America and Western Europe are expected to dominate the market for preimplantation genetic testing owing to high awareness among the people and presence of several end users providing preimplantation genetic testing services. APEJ is expected to be the next lucrative market. Latin America and MEA regions are also expected to witness significant growth in the preimplantation genetic testing market. The growth of preimplantation genetic testing market is mainly dependent on resolving the ethical restraints involved and introduction of effective regulations for ethical use of technology in various regions.

Preimplantation Genetic Testing Market: Market Participants

Some players in the preimplantation genetic testing market are Abbott Laboratories, Natera, Inc., Illumina, Inc., Perkin Elmer, Inc. Thermo Fisher Scientific, Inc., F. Hoffmann-La Roche Ltd and others

The research report presents a comprehensive assessment of the market and contains thoughtful insights, facts, historical data, and statistically supported and industry-validated market data. It also contains projections using a suitable set of assumptions and methodologies. The research report provides analysis and information according to categories such as market segments, geographies, types, technology and applications.

The report covers exhaustive analysis on:

Market Segments

Market Dynamics

Market Size

Current Trends/Issues/Challenges

Competition & Companies involved

Value Chain

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Regional analysis includes:

North America (U.S., Canada)

Latin America (Mexico. Brazil)

Western Europe (Germany, Italy, France, U.K, Spain, Nordic countries, Belgium, Netherlands, Luxembourg)

Eastern Europe (Poland, Russia)

APEJ (China, India, ASEAN, Australia & New Zealand)

Japan

Middle East and Africa (GCC, S. Africa, N. Africa)

The report is a compilation of first-hand information, qualitative and quantitative assessment by industry analysts, inputs from industry experts and industry participants across the value chain. The report provides in-depth analysis of parent market trends, macro-economic indicators and governing factors along with market attractiveness as per segments. The report also maps the qualitative impact of various market factors on market segments and geographies.

Report Highlights:

Detailed overview of parent market

Changing market dynamics of the industry

In-depth market segmentation

Historical, current and projected market size in terms of volume and value

Recent industry trends and developments

Competitive landscape

Strategies of key players and product offerings

Potential and niche segments/regions exhibiting promising growth

A neutral perspective towards market performance

Must-have information for market players to sustain and enhance their market footprint

NOTE All statements of fact, opinion, or analysis expressed in reports are those of the respective analysts. They do not necessarily reflect formal positions or views of Future Market Insights.

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Preimplantation Genetic Testing Market Growth in Technological Innovation, Competitive Landscape Mapping the Trends and Outlook - Wolf Mirror

Tickets to the Pulaski County Extension Homemakers annual tasting luncheon will go on sale Tuesday, October 1, at 8:00 o'clock at the Extension Office. This big event will be held on Friday, November 15, with seating at 12:00 noon. The cost is $20, which includes the tasting of lots of new foods and a recipe booklet of all items served. The seating to the luncheon is limited so be sure to buy your ticket or tickets soon. To make sure that all persons are treated equally, advanced sales or call in orders are not accepted. However one person can purchase as many tickets as needed starting Tuesday Morning, October 1. The "Pumpkin Kisses and Holiday Wishes" theme will be held at the Langdon Street Baptist Church Activity Center at 103 Langdon Street.

The Pulaski County Extension Homemakers Bazaar will be held at the Somerset Mall this year. The bazaar "Pumpkin Kisses and Harvest Wishes" will be held on Saturday, November 23, starting at 10:00 o'clock. Tables will be rented to those people wanting to sell their crafts, art work, pieced goods, baskets, quilts, wood crafts, knitting and crocheting items, etc. Tables are rented for $10 each to Homemaker members, or $25 each to non-members. Participants are not allowed to bring in their own table. Come by the Extension Office to rent your table.

Another homemaker year has begun. Extension Homemakers are encouraged to pay their dues to their secretary or treasurer who will turn in their dues to the Extension Office. Mail box members and other interested persons wanting to join the homemaker, can pay at the Pulaski County Extension Office. Dues are $11 yearly and membership is available to everyone.

If you are a female over 50 years of age do you have Ovarian Cancer Screening yearly? September is Ovarian Cancer Awareness Month. One of the reasons that ovarian cancer is so deadly is that in its early stages, it rarely causes any symptoms. Yet ovarian cancer causes more deaths each year than any other cancer of the female reproductive system. Ovarian cancer awareness and screening is of utmost importance for all females.

The Pulaski County Extension Homemakers, and all of the other 119 Kentucky County Extension Homemaker Groups, donate money every year to University of Kentucky Ovarian Screening program. This research program encourages all women over the age of 50 to have an Ovarian Screening yearly, and it is a free health screening. You don't have to be a member of the Extension Homemakers for this service. For information about UK Ovarian Cancer Screening Program, or to make an appointment, call 1-800-766-8279. Ovarian screening is also available at the Pulaski County Health Department, but you call the number listed above to make an appointment for Lexington or Somerset.

The American Cancer Society estimates that in 2019 about 23,000 women will get a new diagnosis of ovarian cancer and about 14,000 of them will die from it. In Kentucky the ASC estimates about 280 women will be newly diagnosed with ovarian cancer, and 190 will die from it. Women from every county in the state have participated in the screening. You may be one that needs to be participating too.

Ovarian cancer is deadly and sneaky. When detected early, it is often curable, but most women who have it don't have any symptoms until it has progressed to an advanced stage, when survival is unlikely. Screening and early detection are critical to saving lives.

The exact causes of ovarian cancer are unknown. We do know that the risk for developing is linked to several factors. Age is a major one with women 50 years of age and older being at a higher risk. Women who have a documented family history of ovarian or breast cancers are more likely to develop the disease. Through genetic testing, which you must request, if a woman has a BRCA1 or BRCA2 mutation she has a higher chance of developing both ovarian and breast cancers. (BRCA1: a gene that normally acts to restrain the growth of cells in the breast but which, when mutated, predisposes to breast cancer)

Other factors linked to the disease include an early age of beginning menstruation, late age at natural menopause, endometriosis, infertility or not bearing children, obesity, and hormone replacement therapy. A lowered risk of ovarian cancer also appears to be a benefit of both bearing children and breast-feeding.

How is ovarian cancer treated? Initial treatment is surgery to remove one or both ovaries and fallopian tubes, depending on the stage of the disease. Some patients may require a hysterectomy and some may need chemotherapy. The disease is highly curable if detected early so if you are over 50 years of age, begin your screening today. The University of Kentucky Ovarian Cancer Screening Program offers free screenings via transvaginal ultrasound to all Kentucky women over age 50 and women over 25 with a documented history of ovarian cancer.

In Kentucky there are six sites that offer this free screening from UK. Call 1-800-766-8279 to schedule your appointment. The Kentucky Extension Homemakers and the Telford Foundation provided the initial funding for the program, and continue to support it today.

Educational programs of Kentucky Cooperative Extension serve all people regardless of economic or social status and will not discriminate on the basis of race, color, ethnic origin, national origin, creed, religion, political belief, sex, sexual orientation, gender identity, gender expression, pregnancy, marital status, genetic information, age, veteran's status, or physical or mental disability.

It's fall and time for fall food. Enjoy this salad today.

Fall Harvest Salad

5 cups torn leaf lettuce

2 cups spinach leaves

1 medium red apple, chopped

1 medium pear, chopped

4 teaspoons lemon juice

cup dried cranberries

cup feta cheese crumbles

cup chopped walnuts

Dressing

2 tablespoons olive oil

2 tablespoons balsamic vinegar

1 teaspoons Dijon mustard

2 teaspoons honey

teaspoon salt

Will yield: 8 1 cup servings

Combine leaf lettuce and spinach leaves in a large salad bowl. Mix apples and pears with the lemon juice in a small bowl and add to the lettuce mixture. Prepare the dressing by whisking together the olive oil, balsamic vinegar, mustard, honey and salt. Pour over the lettuce mixture and toss to coat. Sprinkle the salad with cranberries, feta cheese and walnuts. Serve immediately.

Events at the Extension Office

Join Denise Salter at the Extension Office on Monday, September 23, at 10:00 o'clock for a free Card Making Class. Learn how to save money by making your own beautiful cards. This group will be meeting in the basement of the Extension Office, Room B.

The Pulaski County Extension Homemakers Council will meet on Monday, September 23, at 11:30 for their by-monthly meeting. Lunch will be provided.

Monday, September 23, you are invited to attend a class on "Addiction 101" at the Extension Office starting at 1:00 o'clock. Addiction to drugs or alcohol is one of the most complex, baffling and heartbreaking conditions in the world. Most people know at least one significant person in their lives who has been affected. Christy Guffey, the FCS Agent in Clinton County, will be conducting the class that is opened to all interested persons.

Just Among Friends Extension Homemakers Club will meet on Thursday, September 26, at 1:00 o'clock at the Extension Office.

Attention All Quilters: The First Baptist Church on Main Street in Somerset, Kentucky will be offering quilters the opportunity to have their antique quilts photographed and documented by the Kentucky Heritage Quilt Society. All documentation of antique quilts is stored at the Western Kentucky University. This service will be available Friday and Saturday, October 18 and 19 in the Bridge Area of the church. Call the Pulaski County Extension Office to schedule your appointment for this service at 679-6361.

Link:
'Holiday Tasting' will be Saturday, November 23 | Lifestyles - Commonwealth Journal's History

The Hinckley Institute Radio HourThis week on the program, we bring you a forum on the Abuelas de la Plaza de Mayo, a group formed in 1977 to locate and reunify with their grandchildren disappeared during the Argentinian dictatorship. This organization of women championed a matriarchal politics and began a legal, psychological and scientific movement to address the injustices and intergenerational traumas of the past. Critical to this effort was the combination of humanitarian justice, cutting edge genetic testing and international scientific exchanges that found 128 of the lost children.

This movement stands out as one in which the quest for human rights fueled scientific development and technological advancement. The genetic research conducted in Argentina would go on to advance the global study of genetic and forensic testing, popularized today by DNA testing companies like 23andMe and AncestryDNA. For their work in defense of human rights, the Abuelas de la Plaza de Mayo received the Flix Houphout-Boigny Peace Prize in Paris in September of 2011.

Giving the talk is Alexandra Minna Stern, Professor and Chair of American Culture, Professor in History, Womens Studies, Obstetrics and Gynecology in the College of Literature, Science and the Arts at the University of Michigan.

This forum was presented by the International Studies Programs Health, Medicine, and the Environment Lecture Series and made possible thanks to the support from the Center for Latin American Studies.

This forum was recorded on April 8, 2019.

Podcast: Play in new window | Download (57.0MB)

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Related

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Genetics and Justice: DNA Identification Technologies in Post-Dictatorial Argentina - KCPW

A new study has shown the power of genetic testing to pick out the best drugs for children with cancer to extend and improve their lives signalling a new era of precision medicine for young patients.

The pilot including more than 200 children found that half had gene mutations that are targetable by adult cancer drugs that are either available as standard treatment or via clinical trials.

Although few children on the study went on to receive adult drugs, those who did receive targeted therapies had significant benefits.

But the study also laid bare the regulatory and funding barriers to children receiving the newest drugs, as only 7 per cent of those with targetable mutations were able to access the appropriate adult drug.

The study was led by The Institute of Cancer Research, London, andThe Royal Marsden NHS Foundation Trust, and offered genetic testing of tumours to children as part of a clinical trial. Some 20 additional hospitals around the UK participated by sending childrens biopsies in for testing.

The research ispublished in theEuropean Journal of Cancertoday (Thursday) and was primarily funded by the parent-led charityChristophers Smileand theNIHR Biomedical Research Centreat The Royal Marsden and The Institute of Cancer Research (ICR).

Researchers used a gene panel test to read the DNA sequence of 91 genes that drive cancers growth and spread from 223 childrens tumour biopsies looking for potentially targetable mutations.

Solid tumours such as those of the brain, central nervous system, bone and muscle are rare but have much worse survival rates than childrens blood cancers such as leukaemia. Surgery is often not possible and treatment is limited to blunt instrument chemotherapies.

The researchers first validated the panel test, showing it to be than more than 99 per cent sensitive at picking up the 91 mutations, even with just 50 nanograms of DNA which is around 1,000 times less than the weight of a grain of table salt.

Using the test, they found 51 per cent of tumour samples tested had mutations that could be targeted by adult cancer drugs.

The most common potentially treatable mutations were in the genes ATRX, CDKN2A and CTNNB1 which were each found in 12 childrens tumours. MYCN mutations were found in 11 tumours and PI3K3CA mutations in 10 tumours.

Three children had BRAF gene mutations which are common in melanoma skin cancers and can be treated using a combination of the drugs dabrafenib and trametinib.

Using these melanoma drugs, one of the children had their brain tumour held in check for 13 months before developing resistance. Another was on the drug for nine months with no progression of disease. The third child couldnt tolerate the combination but had a response to dabrafenib for 15 months.

But there are still challenges to overcome, since the majority of children with targetable mutations didnt receive adult drugs because there was no trial available for the drug in children, they were unable to access the drug on the NHS or they were too ill to receive an experimental treatment by the time they were tested.

For eight of the patients, there were samples available at diagnosis and after treatment and in six of those, testing revealed that the cancer had acquired new mutations as it evolved in response to treatment. That highlights the need to take an additional biopsy at relapse to search for targetable mutations.

For 12 of the children, the researchers were also able to test for cancer gene mutations in DNA released from tumours into the bloodstream from a blood sample. They found blood tests picked up almost all of the mutations found in the tumour, and in some cases they also found extra mutations which were not detected in the tumour region biopsied.

In future work the researchers will use serial blood tests to monitor how tumours evolve in response to therapies which will be particularly useful in hard-to-biopsy tumours.

Additionally, for children with brain tumours, the researchers are now looking at using samples of cerebral-spinal fluid to find drug targets. Although lumbar punctures are invasive, they are less so than a brain biopsy.

Study author Dr Sally George, Clinical Research Fellow at the ICR and Consultant Paediatric Oncologist atThe Royal Marsden, said:

Children deserve the very best cancer treatments, so they can live as long as possible and as well as possible. We desperately need better, more intelligently designed treatments which can give children longer with their families with fewer side effects.

By testing tumours for specific gene mutations, we have shown its possible to identify new smarter, kinder treatment options for children, which may potentially give these patients much longer with their families after conventional therapies have failed.

But our study also exposes the desperately frustrating barriers that children still face in receiving new treatments barriers which lie in the regulations controlling how drugs for children are developed and approved.

Study leaderProfessor Louis Chesler, Professor of Paediatric Cancer Biology at the ICR, and Consultant at The Royal Marsden, said:

Our study has demonstrated that we have the scientific knowledge and technology to get children access to state-of-the-art testing and treatments. And because our testing currently only assesses a focused set of well-known and clinically meaningful mutations, it is more practical, faster and more cost-effective than looking at the whole genome.

In future, I want to be able to treat more children whose tumours have these targetable mutations with better drugs, as currently not all children have access. But gathering the molecular data is the first practical step to making this possible. This data, and more that we are continuing to collect, will be good evidence to more clearly guide use of the most appropriate drug for each child.

It is also very important that we extend very robust and detailed testing to children at time of diagnosis, so we can more accurately classify and treat these cancers in the first place. We will also be looking at the utility of the approaches for detecting cancer relapse, a very important area where we currently have few tools to anticipate what treatments may be required with adequate time to do so.

Dr Mike Hubank, Head of Clinical Genomics at The Royal Marsden and Reader in Translational Genomics at the ICR, said:

The next steps for testing will be to look at using liquid biopsies to detect targetable tumour mutations without having to rely on invasive biopsies to get the information.

Our early results, presented here, show that we can detect more mutations in blood than we do in conventional biopsies. It is probably in the blood that we get a more complete picture of the whole tumour, and not just the small part of the tumour that was removed for testing. Blood-based testing will also allow us to monitor tumour response to treatment and may be able to detect relapses early, offering the possibility of finely tuned, personalised treatments in the future.

Karen Capel is the founder and trustee of UK childrens cancer charityChristophers Smile, who funded the development of the test. Karen and her husband Kevin have campaigned tirelessly to improve the treatment for children with cancer after their son Christopher died from medulloblastoma in 2008. Karen said:

When our son died there was no biological information available to doctors about individual childrens tumours. There is an urgent unmet need to provide new treatments for those children diagnosed with the most aggressive and hard-to-treat cancers.

This test Professor Chesler and colleagues at the ICR developed is a first for children. We believe gene sequencing is the key foundation stone in enabling personalised medicine, and it will help to bring new treatments for children a step closer.

Building on the foundations of the sequencing test, blood tests could provide critical information for any child from diagnosis throughout their treatment and into remission opening the door for additional, continued or changed treatments. We are determined to fight for these liquid biopsies to become standard of care at the earliest opportunity.

Reference: George, et al. (2019) A tailored molecular profiling programme for children with cancer to identify clinically actionable genetic alterations. EJC. DOI: https://doi.org/10.1016/j.ejca.2019.07.027

This article has been republished from the following materials. Note: material may have been edited for length and content. For further information, please contact the cited source.

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The Power of Genetic Testing Picking Out the Best Drugs for Children With Cancer - Technology Networks

If you found out today you were at a high risk of being diagnosed with Alzheimers disease, what would you do? Crawl under the covers? Take that exotic vacation? Wish youd never found out?

Or would you change the way you live?

When a genetic test revealed that Jamie TenNapel Tyrone had a 91 percent chance of developing Alzheimers, she slipped into a deep depression. She thought about suicide.

Tyrone had been worried about multiple sclerosis. Thats why she took the test, to see if she had any of the genes associated with MS following some neurological symptoms. At 49 years old, Alzheimers disease wasnt anywhere on her radar.

I was devastated, Tyrone said. She was also critical about the way the 2009 study was designed, without genetic counseling before or after, leaving her completely unprepared for the shock of her results.

Then she surprised herself. She wrote a book about her experience to guide others through the pros, cons and pitfalls associated with genetic testing. It was co-written with geriatric neurologist Marwan Noel Sabbagh.

I think people now can get commercial genetic testing (services) like 23andMe and not understand the consequences of what theyre getting tested for, Sabbagh said.

Fighting for my Life: How to Thrive in the Shadow of Alzheimers describes the emotional journey Tyrone went through after participating in genetic testing as part of a research study 10 years ago.

The basis for the study was to find out if, or how people would change their lifestyle if they knew they had a high risk of disease by using genetic testing. The research showed that knowing the risk of disease did not lead to significant lifestyle changes.

Without the counseling, Tyrone said she felt abandoned by researchers when she found out she has two copies of the apolipoprotein E4 gene, which is linked to an increased risk for Alzheimers.

Afraid of the stigma associated with the disease, she avoided discussing her results at first, fearing that shed be discriminated against or ostracized.

There are laws that protect people from certain forms of discrimination related to genetic information, but theyre not all-inclusive.

The Genetic Information Nondiscrimination Act protects individuals from being denied health insurance or charged higher premiums based only on the genetic predisposition to a disease. It also means that employers cant make decisions to hire, fire, segregate or otherwise mistreat employees based on the results of genetic testing.

But it doesnt protect access to long-term care, life or disability insurance.

For three years I didnt talk about it and I became very depressed, said Tyrone, who lives with her husband in Ramona. I contemplated not being in the world.

After years of depression, suicidal thoughts, therapy and being diagnosed with post-traumatic stress disorder, Tyrone now volunteers as a research collaborator, or what she calls a lab rat. She wants to help scientists find a cure for the disease and hopes that participating might help her to prevent the onset of the disease, or cure her someday if needed.

The first person cured of Alzheimers disease is going to be a research participant, Tyrone said, paraphrasing UsAgainstAlzheimers founder George Vradenburg.

If she had it to do over again, would she take the test? Tyrone said she probably wouldnt.

I truly believe that if I had genetic counseling during the consent process, I would have chosen not to be tested, she said.

Even still, Tyrone said finding out about her risk has been a gift in some ways because it prompted her to help others through public speaking and writing her book. She hopes her story can help people to decide if and when to take genetic tests in search of potential health risks.

Co-author Sabbagh said he generally advises that genetic testing only be done if there are already symptoms present. He also suggests working to increase brain health early on before memory loss symptoms begin.

The fact is that by the time you come into the office to get seen for your memory issues, the changes in the brain have been accumulating for a long time, he said.

Now 59, Tyrone said shes cognitively healthy, but still searching for answers to the mysterious neurological issues that led her to the testing in the first place.

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When genetic testing goes sideways: One woman's cautionary tale - The San Diego Union-Tribune

The agency has expressed worry that unsupported claims about gene-drug links could be dangerous if they spur patients to start, stop, or switch medications in inappropriate ways. But the American Clinical Laboratory Association says the warnings could stifle a burgeoning industry.

Stat:Groups Push Back Against Troubling FDA Crackdown On Genetic TestsIn recent weeks, the genetic testing world has been rattled by the Food and Drug Administrations efforts to quietly pressure a number of companies to stop reporting results to patients about how their genes may interact with specific drugs. Now, increasingly, the industry is pushing back. On Wednesday, a trade group that represents clinical laboratories sent a sharply worded letter to the agency calling its enforcement actions troubling and inappropriate. The letter, from the American Clinical Laboratory Association, warned that the agencys actions could stifle the growth of a burgeoning industry and make it harder for patients to get the right types and doses of their medications. (Robbins, 9/18)

In other news on the FDA

Stat:FDA To Modernize Its IT And Make More Efficient Use Of DataDr. Amy Abernethy, the principal deputy commissioner at the Food and Drug Administration, is unveiling a three-point plan to radically redirect the agencys efforts at using computer technology. At a Wednesday meeting held by Friends of Cancer Research, a patient advocacy group, Abernethy, who is also the FDAs acting chief information officer, plans to outline how regulators can move more of their work to the cloud virtual servers and automate work that is now done by hand. This, she said, could change the way that the agency interacts with the companies it regulates. (Herper, 9/18)

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FDA's Warnings Over What Genetic Testing Companies Can Report To Patients Deemed 'Troubling' By Industry Group - Kaiser Health News

Federal authorities warn of a telemarketing scam that offers "free" cancer screenings that lead to Medicare fraud. Federal authorities warn of a telemarketing scam that offers "free" cancer screenings that lead to Medicare fraud. Related stories

FORT MYERS, Fla. - Federal investigators call it the latest scheme targeting consumers on Medicare and it all begins with claims of free screening for cancer.

Tammy Rose fears her 83-year-old mom, who lives in Sebastian, recently fell for the scam after receiving a call from a telemarketer.

"They started asking her questions like what did your mother die from? What did your father died from? What's your family history?"

Tammy's mom has heart issues, cancer runs in the family so when the telemarketer pitched free cancer screening, her mom bought in. A package of q tip swabs and a dispenser arrived a few days later.

"She was to swab one cheek corner and then swab the other cheek corner," Tammy said. Her mom was directed by the company to place the swabs in separate bags and send it back to the facility, which she did. A few days later, Tammy received a frantic call from her mom.

"My mom called me crying saying she just saw something on TV saying it was a fraud," she said.

On the west coast of Florida, complaints about fraudulent DNA cancer screening is now the number one call at the Area Agency on Aging for Southwest Florida says senior advocate Camalita Aldridge.

"We're seeing more and more of these cases. There are various forms of the scam. Folks can receive these kits at home whether they're solicited or not," Aldridge said.

Aldridge says companies who do this fraudulently are targeting Medicare patients by telling them each screening is free. These companies are screen patients for which cancer or genetic testing is not medically necessary and/or not ordered by the beneficiary's doctor. But every DNA screening test represents an opportunity to cash in since Medicare (taxpayers) will pay for it. Each screening can range from $10,000 per test to upwards of $30,000 says Aldridge.

"They work on someone fear," she said. "If a consumer thinks that if I can know ahead, diagnose and then treat, then I might prevent [cancer], scammers know this so that's what they do," she said.

While legitimate DNA cancer screening can be helpful for some people who qualify, experts advise any health screening should take place at your doctor's office and be approved by your own doctor not a stranger.

Cole Buckley of Fort Myers showed us several flags and fliers he had made for what he thought would be a lucrative DNA cancer screening business.

"I was going to be the man on the ground," he said. "I was going to go to different things like health fairs, flea markets and set up a booth where we can pre-screen people," he explained about the pitch he heard about in January.

Buckley said the company, which no longer offers DNA screening, told him to only target seniors on Medicare and a company doctor, who Buckley never met, would approve each test. Buckley said he spent $200 to sign on with the company and another $1000 in marketing for the flags, fliers and business cards he had made which all tout "free DNA cancer screening." But in the end, he said, the company pulled out and never sent him any cancer screening kits. Buckley said he felt duped.

"I thought I was going to make a lot of money," he said. When asked how much, Buckley said he was told by the company it would be "thousands per month."

Tammy Rose's mother doesn't know yet if Medicare was charged for her screening. She hasn't received any results from her so-called "free" screening but she did file a police report and Tammy reported the company to Medicare knowing if her mother fell for it, chances are, thousands of others are doing it too.

"I'm angry that my mother was targeted. Someone's getting rich off this and they need to be in prison," she said.

How to protect yourself from falling victim to "free" cancer screening - If a genetic testing kit is mailed to you, don't accept it unless it was ordered by your doctor or return it to the sender. - Keep a record of the sender's name and date of your returned items. - Be suspicious of anyone who offers you "free" genetic or cancer screening and then requests your Medicare number. - Be cautious of unsolicited requests for your Medicare numbers. Don't provide your Medicare information to anyone you don't know.

- If you suspect Medicare fraud, contact the Office of the Inspector General.

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Genetic testing latest target for fraud - KTVZ

DENVER Sisters Marcy and Elissa Newman have always known they had strong familial ties to breast and ovarian cancer.

Our grandmother was a two-time breast cancer survivor, and we had several aunts that had breast cancer and had passed away, Marcy said.

Even so, the sisters only got tested for the BRCA gene after Marcy was diagnosed with ovarian cancer at the age of 47. The gene, often known as the breast cancer gene, actually raises the risk for multiple types of cancer.

When Marcy found out she was BRCA1 positive, she called her sister.

As we were hanging up the phone she said, 'By the way, Im BRCA1 positive, and you have a one in two, or 50 percent, chance of having the gene,' Elissa said.

She said she was encouraged to get tested even earlier in life because of her family history, but at the time, insurance laws allowed companies to discriminate based on a pre-existing condition.

Thats no longer the case, but genetic counselor Lisa Mullineaux said people are still fearful of getting genetic testing for other reasons.

They may not be ready to know that they have an increased risk, or theyre not ready to take action, said Mullineaux.

Some people who find out they have the BRCA gene may simply opt for additional screenings or may take birth control pills to reduce their ovarian cancer risk. But Elissa decided to take more extreme action. She had her ovaries, Fallopian tubes, uterus and breasts removed.

To reduce my risk to that of the natural population, was well worth it, she said.

Elissas 20-year-old will soon get tested for the BRCA gene, because men who have the gene face an increased risk for prostate, pancreatic and other cancers.

The United States Preventative Services Task Force recently updated the recommendations for BRCA1 and BRCA2 testing to include more of the population. And since its now considered preventative, the testing may be covered by insurance.

Marcy is celebrating 5 years as an ovarian cancer survivor, but wishes shed been told about all her options earlier.

I would have expected an expert who knew my family history would have had me take additional steps and screenings, she said. Now, I know we have to advocate for ourselves and educate others.

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Sisters encourage women, men to get tested for cancer gene - The Denver Channel

CHICAGO (CBS) The price of DNA testing to see if we are genetically more likely to develop certain health complications is dropping, but the benefits are still out of reach for many who cant afford it. One area hospital is now offering the tests free of charge to help patients better prepare for the health risks ahead.

CBS 2 Morning Insider Vince Gerasole took the test and shares the changes he now has to make in his life.

The world of genetic testing can save lives, helping patients detect mutations in their DNA that could lead to certain types of cancers and other medical complications.

The benefits, they can be many, said Dr. Peter Hulick, medical director of the Mark Neaman Center for Personalized Medicine at NorthShore University HealthSystem.

Youve seen the commercials; once costing thousands of dollars, DNA tests are now marketed to the masses at prices a bit more reasonable, most near $200. Its still a price not all can afford; minorities, especially, have been under-represented in the populations taking the tests.

Thats part of the reason why we opened this to our primary care network, so anyone of any ancestry can have access to this information, Hulick said.

NorthShore University HealthSystem is now providing DNA screening free of charge through a program called DNA 10K.

It aims to make interpreting the results and taking action if necessary part of standard health care.

What it allows us to do is to make a better plan, so that you can be proactive with this information so that we can get you on the right screening and prevention path, Hulick said.

CBS 2s Vince Gerasole participated in the process. Following a quick blood draw, his sample was sent to the labs at health technology firm Color. In a few weeks, a genetic counselor reviewed his results by phone.

The results included a significant red flag: several women in Gerasoles immediate family have died from breast cancer, so it was not much of a surprise that he tested positive for the BRACA 1 mutation, making him more likely to develop male breast cancer, as well as pancreatic and prostate cancer.

Genetics is not a crystal ball. It doesnt predict your life. It doesnt tell you when or exactly if something is going to occur, Hulick said.

However, the results can help patients consult with their doctors and make choices ranging from lifestyle to more frequent medical screenings to preventative surgeries like breast removal.

Its not destiny. Genetics isnt destiny, Hulick said.

But if available to more patients, it could be destined to help.

Call 847-570 GENE (4363) to learn how you can participate.

Originally posted here:
DNA Testing Can Help Detect Possible Health Risks; Genetics Is Not A Crystal Ball - CBS Chicago

16 September 2019

Seventeen former employees of a genetic testing company, Orig3n, have accused it of not meeting scientific standards and returning inaccurate results.

In an interview with Bloomberg Businessweek, the employees, who had previously been managers, lab technicians, software engineers, marketers, and salespeople, said that the company's test results could not be replicated for the same person. The company, based in Boston, Massachusetts, allegedly built software to automatically return the initial outcome if a repeat analysis did not match. A technician has reported a document of 407 such errors over a period of three months from fewer than 2000 tests.

'Accurate science didn't seem to be a priority,' a former lab technician told Bloomberg. 'Marketing was the priority.'

Orig3n's genetic tests, costing between US$28 and $298, are used to advise customers on lifestyle choices and help them to identify their genetic predispositions and the 'superhero traits' that they are most likely to have.

The employees claim that the advice provided to customers was often generic good health practice collected from the internet or had limited scientific evidence. Examples included eating kale, wearing sunglasses, or eating sugar and almond oilto reduce stretch marks.

Co-founder and CEO of Orig3n, Robin Smith, said the company 'wholeheartedly' disputed these assertations. He said the company has operated under the Clinical Laboratory Improvement Amendments (CLIA) - US federal testing regulations to ensure proper practice, since November 2017 and that many of the claims concern a period before this.

'Orig3n had to change many of its laboratory staff precisely because they simply wanted to "do things their way", rather than in compliance with CLIA,' he said. He also offered to review any tests if customers have concerns. The former employees were at the company between the summer of 2015 and autumn 2018.

Orig3n was previously singled out as part of an NBC Chicago investigation into genetic testing in 2018. When the reporter submitted genetic material from a Labrador retriever called Bailey, the company produced a seven-page report about her genetic traits, stating that she had strong muscle force and cardiac output for long endurance, while failing to note that she was not a human. Other companies said that the genetic material was 'unreadable'.

Read more from the original source:
DNA company accused of fudging people's genetic test results - BioNews

--(BUSINESS WIRE)--Wolters Kluwer Tax & Accounting:

What: In recent years when presented with the opportunity, the Internal Revenue Service (IRS) has identified a number of expenses as qualifying medical expenses for purposes of the itemized deduction for medical expenses or for qualified distributions from health savings accounts or flexible spending accounts. These have included smoking cessation programs, weight loss programs, and gluten-free products for celiac disease. Now, in a private letter ruling, the IRS has spelled out the circumstances under which genetic testing might qualify as a medical expense.

Why: While private letter rulings cannot be relied upon by taxpayers other than the taxpayer to whom it was issued, the ruling on genetic testing does indicate the IRS thinking on the matter and how they might treat similar situations:

Who: Federal tax expert Mark Luscombe, JD, LL.M, CPA, Principal Federal Tax Analyst at Wolters Kluwer Tax & Accounting, is available to discuss these developments with respect to genetic testing and qualified medical expenses in general.

PLEASE NOTE: The content of this article is designed to provide accurate and authoritative information in regard to the subject matter covered. The information is provided with the understanding that Wolters Kluwer Tax & Accounting is not engaged in rendering legal, accounting, or other professional services.

Contact: To arrange interviews with Mark Luscombe, other federal and state tax experts from Wolters Kluwer Tax & Accounting on this or any other tax-related topic, please contact:

MARISA WESTCOTT212-771-0853marisa.westcott@wolterskluwer.com

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MEDIA ALERT: IRS Approves Medical Expense Deduction for Genetic Testing - Business Wire

The ConversationSep 21, 2019 16:50:49 IST

Dramatic developments in genetics research and the availability of commercial genetics tests have put us in a very modern predicament we can now find out (quickly, easily and cheaply) whether we personally hold genetic risk factors that put us at a substantially increased risk of Alzheimers disease. In addition, we have recently shown that brain changes can be identified in people holding these genetic risk variants as early as 20 years old.

Should we be testing ourselves? Should we worry? No. Heres why:

Representational image credit: StunningArt/Shutterstock

Genetic research has revealed that some individuals carry variants of specific genes that confer an increased risk of developing Alzheimers disease in later life. For example, carriers of the 4 variant of the APOE gene are approximately three to eight times more likely to be diagnosed with Alzheimers disease after age 60 than individuals without this variant. The more variants, the greater the risk with a maximum of one inherited from each parent.

In our recent research, we looked at these genetic factors in young people (around 20 years old, on average). We split them into higher-risk and lower-risk groups depending on whether they did or did not carry the APOE-4 gene variant, respectively.

Using advanced brain imaging techniques, we were able to show that it is possible to detect subtle differences in particular brain networks for the higher-risk young adults, several decades before any clinical symptoms of Alzheimers emerge.

While brain structure and function were significantly different between the risk groups on average, it is very important to point out that not all higher-risk individuals go on to develop Alzheimers disease. (Note that we say higher not high risk.)

The brains of many of these individuals were comparable to those at lower risk. This means carrying a higher-risk gene variant does not necessarily lead to early brain changes, or an Alzheimers diagnosis later in life.

Public interest in genetics and gene testing is booming. Recent times have also seen highly publicised incidences of people responding to their own genetic risk with drastic interventions. For instance, Angelina Jolie, who has a faulty copy of the BRCA1 gene, associated with breast cancer and had elective surgery to remove both breasts and some of her reproductive organs.

Direct to consumer genetic testing kits sold by companies now provide people with convenient and affordable access to their personal genetic information, including their genetic risk for specific diseases, including Alzheimers.

But the relatively low cost of these tests reflects the fact that they typically only cover a fraction of the genome. The results, therefore, neglect the contribution of the rest of the consumers genetic code. This will include other genes with protective, as well as negative, effects.

Oral swaps and saliva samples are used by Direct To Consumer commercial genetic tests. image credit: B-DSPiotrMarcinsk/Shutterstock

Of other concern, these tests have been shown to frequently generate false positive results: indeed, one study found approximately 40% of variants in a variety of genes reported in raw commercial genetic test data were false positives. This could lead to unnecessary distress, treatment and lifestyle adjustments. These tests also come with privacy and social concerns.

On the upside, the popularity of commercial genetic testing partly reflects consumers positive desire to be proactive about their health. Consumers concerned about commercial genetic test findings should, however, request confirmatory tests from their clinician. These consumers should also understand that the disease risk reports they have purchased at best provide a partial answer to the question they are trying to address, because disease risk is about much more than genetics alone.

The next step for our research is to find out what leads some people at higher-risk to go on to develop these early brain changes, but not others. Do these people exercise or sleep less, maintain a poorer diet, or have poorer social relationships? Many possible answers involve lifestyle factors that could potentially be altered to buffer individuals against their genetic risk.

The only way to properly understand which lifestyle factors may have such a protective effect is to study large numbers of people with varying degrees of genetic risk over several decades.

We are part of an international team of scientists undertaking one such study, led by Professors Kim Graham and Andrew Lawrence at Cardiff University. The project involves collecting advanced brain imaging and cognitive test data from a large group of approximately 240 young adults. These individuals are part of a cohort that has been studied since birth, so we can access a wealth of retrospective health and lifestyle data.

Can lifestyle factors like reading, exercise and socialising protect us from our genetic risks as we age? image credit: RomanSamborskyi/Shutterstock

Smaller, isolated studies looking at lifestyle factors might currently be missing the big picture. Brain differences have been found in these high-risk groups between people who do and dont exercise regularly. This could suggest exercise has a protective effect on the brain, and may, in turn, mitigate Alzheimers risk. It could also be that exercisers engage in other protective behaviours like eating a healthier diet. It is only with large-scale cohort studies that we can begin to disentangle the genetic and lifestyle contributions to cognitive performance, the brain and Alzheimers risk.

Finally, if you are considering making lifestyle changes to offset your genetic risk for Alzheimers, taking regular exercise and maintaining a healthy lifestyle is seldom bad advice. Other drastic lifestyle changes, however, are likely unjustified.

Mark Postans, Postdoctoral research associate, Cardiff University and Carl Hodgetts, Research Fellow in Cognitive Neuroscience, Cardiff University

This article is republished from The Conversation under a Creative Commons license. Read the original article.

See the article here:
Alzheimer's Day: Carriers of risky gene show brain changes in its 20s but we don't need to worry - Firstpost

Molecular diagnostics market is growing at a significant rate due to increasing awareness for the same and rising investments in the field. Genetic testing refers to a process of analysis of human DNA in any of its form or related products such as RNA, chromosomes, DNA and others. Genetic testing is widely used for detection of diseases that are related to genotype, phenotype or mutation. Also, genetic testing is done to detect karyotype for clinical purposes. Popularity of genetic testing is increasing due to various advantages offered by this procedure such as detection of genetic abnormalities in early gestation period of about 8 to 10 weeks. In addition, it also helps to determine the sex the fetus. Genetic testing market is growing at a significant rate due to increasing awareness and discoveries in the field. Of all the tests performed for genetic testing, screening for genetic mutations with Cystic Fibrosis Trans-Membrane Conductance Regulator (CFTR) gene is most widely performed.

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North America dominates the global market for genetic testing due to increasing prevalence of diseases by genetic disorders and high technological advancement in the region. Europe, followed by Asia, is expected to show high growth rate in the next few years in genetic testing market. China and India are expected to be the fastest growing genetic testing markets in Asian region. Some of the key driving forces for genetic testing market in emerging countries are increasing R&D investment, large pool of patients and rising government funding.

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Various factors such as advancements in genetic testing technologies, increasing prevalence of genetic diseases and growing awareness are driving the global genetic testing market. In addition, government initiatives and increased R&D activities in the field have been driving the genetic testing market. However, high cost involved, lack of experienced professionals and stringent regulations in some regions is restraining the global genetic testing market.

Innovation of some new techniques for genetic testing, increased efficiency and accuracy are expected to offer good opportunities for global genetic testing market. In addition, emerging markets hold good potential for growth of genetic testing market due to rising patient pool and growing awareness in these regions. Some of the major trends that have been observed in the genetic testing market are shift of focus from clinical science to bioinformatics and growing popularity of these techniques, leading to high rate of adoption of genetic testing technology. Some of the major companies dealing in genetic testing market are Abbott Laboratories, BioRad Laboratories, Abbott Molecular Inc., AutoGenomics Inc., Celera Group, PerkinElmer Inc., Quest Diagnostics Inc., ELITech Group, Roche Diagnostics Corp., Applied Biosystems Inc., Roche Molecular Diagnostics Inc., Transgenomic Inc. and others.

Key points covered in the report Report segments the market on the basis of types, application, products, technology, etc (as applicable)

The report covers geographic segmentation North America Europe Asia RoW The report provides the market size and forecast for the different segments and geographies for the period of 2010 to 2020 The report provides company profiles of some of the leading companies operating in the market The report also provides porters five forces analysis of the market.

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Genetic Testing Market to Record Sturdy Growth by 2020 - Commerce Gazette

Increased of genetic diseases in the fetus and fetus, such as Downs syndrome, Edwards syndrome, and Pataus syndrome, is a driving force that has a large impact on the growth of the fetal and native genetic testing market. Increasing demand for genetic testing of the fetus and newborn to identify genetic abnormalities of 8-11 months before pregnancy and to determine the sex of the fetus is a factor for the growth of this market.

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Top Key Vendors:

Ariosa Diagnostics (Roche), Berry Genomics, BGI, Biorad, Illumina, Laboratory Corporation of America, Natera, Qiagen, Sequenom, Trivitron Healthcare and Verinata health..

By Geography: North America, United States, Canada, Mexico, Others, South America,Brazil,Argentina,Others,Europe,Germany,France,Italy,Spain,UK,Others,Middle East and Africa, Saudi Arabia, UAE, Israel, Others, Asia Pacific ,India, China, Japan ,Australia, Others

The base year considered for the study is New-born Genetic Testing and the market has been examined for the forecast period of 2026.The global New-born Genetic Testingmarket can be used an an insightful understanding for a diverse readership. This informative report provides vital information about the leading key players operating across the world. The competitive landscape has been elaborated on the basis of investment and productivity carried out by top-level companies. Successful business strategies have been roped in this viable analysis of New-born Genetic Testingmarket. This report inspects the entire demand and supply chain in the global New-born Genetic Testing market. It traces the journey of the market with an adjunct summary of several case studies. It conveys the information about distributors operating in the global demanding regions. Additionally, it evaluates dynamic aspects of the industries such as New-born Genetic Testing.

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It helps in understanding the key product segments and their future

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Table of Content:

Chapter 1 Industry Overview of New-born Genetic Testing MarketChapter 2 Manufacturing Cost Structure Analysis of New-born Genetic TestingChapter 3 Technical Data and Manufacturing Plants Analysis of New-born Genetic TestingChapter 4 Global New-born Genetic Testing Overall Market OverviewChapter 5 New-born Genetic Testing Regional Market AnalysisChapter 6 Major Manufacturers Analysis of New-born Genetic TestingChapter 7 Development Trend of Analysis of New-born Genetic Testing MarketChapter 8 New-born Genetic Testing Marketing Type AnalysisChapter 9 Conclusion of the Global New-born Genetic Testing Market Professional Survey Report 2019Chapter 10 Continue.

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Innovative research of New-born Genetic Testing Market 2019 with Major Key Player are Ariosa Diagnostics (Roche), Berry Genomics, BGI, Biorad,...

A new case series raises the question of whether electronic gaming may cause ventricular arrhythmias and contribute to syncope in children with certain underlying conditions.

The authors report on four instances of syncope resulting from ventricular tachycardia (VT) or ventricular fibrillation (VF) in three children with either long QT syndrome (LQTS) or catecholaminergic polymorphic VT (CPVT) who were playing electronic war games at home. The underlying conditions were previously undiagnosed in two of the children.

"We are proposing that only a very small group of children may possibly be at risk of arrhythmia during gaming," study author Christian James Turner, MB, BS, pediatric cardiologist and electrophysiologist, the Sydney Children's Hospitals Network in Australia, told theheart.org | Medscape Cardiology.

"We know that children with conditions such as long QT syndrome or CPVT are at risk for dangerous arrhythmia during certain types of sporting or swimming activities this is well documented and well-established guidelines have been formulated," Turner noted.

"We think that there may be a similar mechanism occurring when children with these conditions become very excited during particular phases of gaming, and it appeared that the events we described occurred when the child was about to win the game," he said.

The report was published online September 19 in the Correspondence section of the New England Journal of Medicine.

All three children were male, ranging in age from 10 to 15 years.

Patient 1, age 10 years, suddenly lost conscious right after winning an electronic war game and spontaneously regained consciousness afterward.

He was subsequently diagnosed with CPVT after experiencing a cardiac arrest at school. Genetic testing revealed a variant (gene encoding ryanodine receptor 2 [RYR2]), which is "likely pathogenic" according to American College of Medical Genetics and Genomics criteria, the authors explain.

Patient 2, age 15 years, already had a history of a cardiac disorder (ie, d-transposition of the great arteries with ventricular septal defect), which was treated using the Rastelli procedure.

While sitting in bed and winning an electronic war game, he became presyncopal and was diagnosed with rapid monomorphic VT. After receiving successful cardioversion in the emergency department, he received an implantable cardioverter-defibrillator (ICD) and treatment with metoprolol. However, 2 months later, he again experienced an episode before he was about to win the same game. Cardioversion by the ICD was successful.

Patient 3, age 11 years, was "animatedly" playing an electronic war game with a friend when he began having palpitations followed by collapse, after which he regained consciousness spontaneously.

No information was available on the particular stage of play at the time of the collapse.

The patient's QT interval-corrected for heart rate was found to be 570 msec, and he was diagnosed with LQTS. Subsequently, several family members also received the same diagnosis, and two unexplained deaths were identified in the family. Genetic testing is currently underway.

"Whilst the exact mechanism for the triggering of arrhythmia is likely to be varied, given that each of these three children had different conditions, one common part of the pathway is likely related to the sympathetic nervous system and adrenergic stimulation," Turner explained.

"As cardiologists, we would like to see all children having physical activities and we know that regular physical activity is good for the child's heart and brain," he commented.

"This applies even to children with underlying heart rhythm conditions, such as long QT syndrome, and for a child with one of these conditions, it is important that the families discuss suitable sporting and physical activity with their cardiologist," he said.

Although certain types of syncope such as vasovagal syncope are common and generally benign, "any episode of syncope occurring in the middle of a sporting or physical activity could potentially be a 'red flag' and should be investigated," he emphasized.

Commenting on the study for theheart.org | Medscape Cardiology, Maully Shah, MBBS, director of cardiac electrophysiology at the Children's Hospital of Philadelphia, noted that scientific guidelines "have been formulated to modify or restrict certain levels of physical activity, including swimming, in individuals with genetic diseases such as long QT syndrome and CPVT because these triggers were well documented."

This "recent report alerts us to the possibility of another trigger excitement associated with video gaming that may also provoke dangerous arrhythmias in a small subset of patients with these conditions," said Shah, who is also a professor of pediatrics, Perelman School of Medicine, University of Pennsylvania, and was not involved with the study.

So the "take-home message for practicing clinicians is to recognize that nonphysical activity may also induce adrenalin surges that can trigger life-threatening arrhythmias in a small subset of patients with certain cardiac conditions," added Shah, who is president of the Pediatric and Congenital Electrophysiology Society (PACES).

Turner added, "When a child with a condition such as long QT syndrome or CPVT is diagnosed, very effective treatment is readily available and is able to prevent further dangerous episodes."

Turner, his coauthors, and Shah have disclosed no relevant financial relationships.

N Engl J Med. 2019;381:1180-81. Article

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Can Video Gaming Trigger Dangerous Arrhythmias? - Medscape

CHICAGO (CBS) Two boys were born through a sperm donor, both were diagnosed with autism, and their mother eventually went on to learn something shocking.

The sperm donor is now linked to even more children with autism and other disabilities.

In her first TV interview, the childrens mother spoke to CBS 2s Suzanne Le Mignot about her plea for change.

Danielle Rizzos face lights up when she talks about her two boys. She calls them my life.

Ive always wanted children, and I do everything for and with my kids, she said.

Rizzo gave birth to her first son in September of 2011 through a sperm donor, known as Donor H898. Fourteen months later, her second son was born, using the same sperm, from Idant Laboratories in New York City.

The donors medical history it was clean, Rizzo said.

About a year after her first sons birth, she saw changes in his behavior.

I started to notice him stop looking at me in my eyes; stop waving Hi, and Bye, Rizzo said.

Her son was diagnosed with autism. Then, her second son received the same diagnosis.

Determined to get therapy for her children, Rizzo searched the internet. She was shocked when she found information linking Donor H898 to at least a dozen cases around the world where children were born with autism or other disabilities.

Rizzo found at least four sperm banks were selling the donors sperm.

Now that theres this donors sperm at so many sperm banks, who knows how many children are out there? she said.

She also learned from other mothers that the donor himself did not speak until after age 3.

I learned he was diagnosed with ADHD, Rizzo said.

Rizzo spent a year calling every sperm bank.

None of them would do anything, she said.

Rizzo did more research. She found a geneticist who would listen.

This seemed like the perfect experiment to study autism in genes, Rizzo said.

She is now working to get more families who used the same donor to give DNA or saliva samples for research. Rizzo also wants to see genetic testing become mandatory at all sperm banks.

There really needs to be regulation and oversight in this industry and thats why Im coming forward, Rizzo said. This needs to change.

The Food and Drug Administration requires donor sperm to be tested for sexually-transmitted diseases. Some sperm banks also do genetic testing.

Rizzo sued Idant Laboratories and accepted a judgment. Idant went out of business.

CBS 2s Le Mignot called Idants parent company and had not heard back as of early Wednesday evening.

Those interested in the study being done for the families who received sperm from donor H898 can go to this website, DonorSiblingRegistry.com.

A friend of Rizzos has also set up a GoFundMe page to defray the costs of therapy for her boys.

Read more from the original source:
Single Sperm Donor Linked To Numerous Children With Autism, Other Disabilities - CBS Chicago

Between 2001 and 2011, Indias elderly population increased from 70 million to 104 million (Census estimates). In 2011, the population over 60 years of age comprised 8.6% of the total population. With falling population growth rates this share is only expected to increase further in the coming decades. As the population ages, the burden of geriatric diseases will start to feel heavier. Of all the geriatric diseases, India is perhaps most underprepared to tackle the burden of degenerative diseases like dementia (memory loss). This is due to a lack of awareness compounded by a dearth of specialists in geriatric diseases.

Alzheimers Disease is the most common form of dementia characterised by progressive degeneration of cognitive abilities. Its symptoms range from forgetfulness in its early stages to loss of speech and immobility in its late stages. However, Alzheimers differs from other geriatric diseases in that its early symptoms are often confused with that of old age and its onset is often missed. According to the Dementia India Report 2010 by the Alzheimers and Related Disorders Society of India (ARDSI), there were around 3.7 million Indians with dementia in 2010 with the number projected to rise to 7.6 million by 2030. A general awareness about Alzheimers Disease remains low throughout the country and even lower in rural and underdeveloped areas. There is an urgent need to increase awareness about dementia in general, and about the early symptoms of Alzheimers Disease in particular. Family members and primary care physicians are best placed to recognise these early symptoms and hence, a national awareness campaign targeted towards them is likely to have the most effect.

Even within the field of medicine, research in dementia and related diseases remain low. Most of our existing knowledge and estimates of the incidence of dementia come from small regional case studies. Similar to the burden of other non-communicable diseases, there is likely to be considerable heterogeneity across the states in the prevalence of dementia brought about by lifestyle and food habits. A thorough pan-India investigation into the current incidence and burden of dementia and Alzheimers is the need of the hour. There is also a need to provide genetic testing services for the Alzheimers gene (APOE-e4) and fund clinical trials. For a disease like Alzheimers, whose risk-factors are genetic, lifestyle, and environmental, we need to conduct clinical trials specific to India and not rely on those conducted in developed countries. Better knowledge of risk-factors is likely to influence patients and family-members to seek healthcare early and allow physicians to detect dementia early.

Alzheimers Disease imposes both economic and non-economic costs beyond that on the patient as family members still provide the bulk of the caregiving. The ARDSI 2010 report estimated the total societal costs from dementia to be 147 billion INR in 2010 with a projected threefold increase by 2030. In addition to direct cost of treatment e.g. cost of medication and physicians, the bulk of these economic costs stem from informal care through loss of wages and income through absenteeism from work or withdrawal from labour force by family members. Long-term care also imposes a psychological toll on the caregiver. In the absence of reliable formal care facilities, the burden of care is borne disproportionately by women. Thus, there exists an untapped market for reliable institutional care both short-term and long-term care for Alzheimers Disease patients. The establishment of care centres will transfer the burden from the family members to trained professionals as well as lead to job-creation. This would obviously require substantial investment up-front on training healthcare workers to recognise and cater to the needs of dementia patients. The National Program for Health Care of the Elderly under the Ministry of Health and Family Welfare aims to bridge some of the gaps in the landscape of geriatric care in India through the setting up of Regional Geriatric Care Centres. However, a focus on dementia and Alzheimers Disease is missing. Currently this gap is being filled by NGOs such as ARDSI who provide certification courses on dementia care. With an increasingly aging population, investments made in training healthcare professionals is likely to pay for itself as demand for these services is only going to increase.

If India is to stay ahead of the curve and prepare for the needs of an aging population, a clearly defined public health strategy with a significant focus on research into degenerative diseases and investment in the training of healthcare personnel is much needed.

Original post:
The persistence of memory: The burden of Alzheimers Disease in India - Brookings Institution