Category Archives: Genetic Medicine

(UroToday.com)Genomics, both of the tumor (somatic) and germline, are increasingly being incorporated into clinical oncologic care, both with regard to specific targeted therapy selections (e.g.PARP inhibitors) and therapy intensity (e.g.aggressive variants,e.g.genomic alterations inRB1, TP53).Often re-biopsy can impose an additional barrier for a patient, or is limited by site of metastasis, such as bone.These realities are justifications for the herald of the non-invasive evaluation of tumor genomics from the circulating (blood) compartment via circulating tumor DNA (ctDNA).Herein, Dr. Tukachinsky and colleagues endeavored to evaluate via hybrid-capture-based targeted gene panel next generation sequencing (NGS) the landscape of genomic alterations (GA) found in the plasma of patients with metastatic castration-resistant prostate cancer (mCRPC), and, in a subset, evaluate concordance with tissue-based NGS assessments.

Plasma samples were culled from 3334 men with advanced prostate cancer, including 1674 subjects from the TRITON2/3 studies of rucaparib and 1660 non-trial clinical samples.The observed GA landscape was compared to 2006 metastatic biopsies, with concordance assessed in 837 patients.In keeping with previous reports of ctDNA burden, 94% (3127) of subjects had detectable ctDNA with 8.8% (295) with mutations inBRCA1/2.Concordance with tissue evidence ofBRCA1/2mutations was observed in 93% of evaluable subjects (67/72) and 20 subjects had evidence of such mutationsonlyin ctDNA.Notably, subclonal reversion mutations inBRCA1/2were observed in 10 of 1660 routine clinical specimens, suggesting a mechanism for PARPi resistance, at least in a subpopulation evaluated.

Alterations inAR, the gene encoding the androgen receptor, were detected in 42% (940/2213) samples, including amplifications and hotspot mutations.Among the mutations detected are specific alterations which confer resistance to commonly used highly-potent ARSIs, such as abiraterone acetate and enzalutamide.The authors also describe a subset of samples with rare compound double mutations and novel potentially activating mutations in AR. Additional GAs were detected in relevant signaling pathways including PI3K/AKT/mTOR (14%), WNT/beta-catenin (17%), and RAS/RAF (5%).Microsatellite instability was rare (1.4% of 2213 patients).

These data lend further support to the relative reliability (as compared to tissue assays) of using plasma for evaluating relevant tumor genomic alterations in the advanced metastatic setting, reflecting genomics data demonstrating that dominant metastatic clones found at autopsy can be found in the circulating compartment1.This is particularly powerful as detection of resistant subclones that may not be in a tissue-based sample, either because these cells reflect occult or unsampled metastatic samples, could impact therapeutic decisions. It should be considered that use of subjects from the TRITON studies, which comprised approximately half of the cohort may result in higher rates of observed GAs inBRCA1/2than in daily practice, given the enrichment in such genomic alterations as ground truth in this group.As noted by the authors, the limitations of the assay in these studies includes an inability to detect deletions inBRCA1/BRCA2, as well as other clinically-relevant commonly-deleted prostate cancer genes (e.g. PTEN). Further evaluation using orthogonal assays, such as RNAseq, would add additional detail, particularly along the AR signaling axis, to these promising results. Finally, the authors astutely recommend that a degree of caution must be taken when interpreting liquid biopsy results, given the influence of alterations representing clonal hematopoiesis.

Publication of full length publication can be found in the February 8thissue ofClinical Cancer Research.

Presented by: Hanna Tukachinsky, PhD, Foundation Medicine Inc., Cambridge, MA

Written by: Jones Nauseef MD, PhD. Fellow, Division of Hematology and Oncology, Weill Cornell Medicine/New York Presbyterian Hospital. Twitter: @DrJonesNauseefduring the2021 ASCO Genitourinary Cancers Symposium (ASCO GU), February 11th to 13th, 2021

References:1. Woodcock DJ, Riabchenko E, Taavitsainen S, et al., Prostate cancer evolution from multilineage primary to single lineage metastases with implications for liquid biopsy. Nature Comm. 11:5070 (2020). DOI:10.1038/s41467-020-18843-5.

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ASCO GU 2021: The Landscape of Genetic Alterations Using ctDNA-based Comprehensive Genomic Profiling in Pat... - UroToday

TipRanks

How important are dividends to a stock investors profits? Speaking before the Financial Industry Regulatory Authority (FINRA) on October 15, 2007, investing guru John Bogle laid out the case: Over the past 81 years reinvested dividend income accounted for approximately 95 percent of the compound long-term return earned by the companies in the S&P 500. These stunning figures would seem to demand that mutual funds highlight the importance of dividend income. So in other words, dividends are pretty important! Of course, right now the average stock on the S&P 500 is only paying about a 2% dividend yield, which isnt a lot. If you want to do better than that, though, the REIT sector is a great place to begin your search for high-yield dividend stocks. REITs are companies that acquire, own, operate, and manage real estate portfolios, usually some combination of residential or commercial real properties, or their associated mortgage loans and mortgage-backed securities. Tax law requires that these companies return profits directly to shareholders, and most of them choose dividends as their vehicle of choice for compliance, resulting in frequent high dividend yields across the sector. The slowly ebbing COVID pandemic was hard on real estate managers, as tenants had trouble making rents and owners had trouble leasing vacant space. However, BTIG analyst Tim Hayes believes there are reasons to stay bullish on CRE properties specifically. "While we recognize the headwinds to commercial real estate (CRE) fundamentals and the potential risk to equity/earnings power, we believe there are several reasons to be constructive, especially with the sector trading at a discount to historical levels and offering attractive dividend yields at wide spreads to benchmark rates," Hayes commented. Against this backdrop, weve opened up the TipRanks database to get the latest stats on Hayes CRE choices. These are stocks that the analyst initiated Buy ratings on, pointing out their high dividend yield. We are talking about at least 9% here. Ares Commercial Real Estate (ACRE) The first dividend pick we are looking at is Ares Commercial Real Estate, a company focused on the commercial real estate mortgage sector. Ares boasts a diversified portfolio featuring office space, apartments, hotels, and mixed-use properties mainly across the Southeast and West. The company has over $2 billion invested in 49 separate loans, 95% of which are senior mortgage loans. At the end of October, the company released 3Q20 earnings (the last reported quarter), showing $22.4 million in total revenue, for a 13% year-over-year gain. The 45-cents earnings per common share was up 40% since the prior year. Furthermore, Ares closed a $667 million commercial real estate collateralized loan obligation, with firmed up funding on 23 senior loans. On the dividend front, Ares declared in December its 4Q20 dividend. The payment, at 33 cents per common share, was paid out on January 15 and is fully covered by current income levels. At current rates, the dividend annualizes to $1.32 and gives an impressive yield of 10.50%. Among the bulls is Hayes, who wrote: We believe shares of ACRE are unfairly discounted relative to other commercial mREITs given strong Ares sponsorship, a very healthy balance sheet, and limited exposure to at-risk assets. In his view, this leaves the company well positioned to face the headwinds from COVID-19. In line with these comments, Hayes rates ACRE a Buy, and his $13.50 price target implies a 10% upside from current levels. (To watch Hayes track record, click here) Only one other analyst has posted a recent ACRE review, also rating the stock a Buy, which makes the analyst consensus here a Moderate Buy. Shares are priced at $12.28, and their $12.75 average price target suggests room for modest ~4% growth. (See ACRE stock analysis on TipRanks) KKR Real Estate Finance Trust (KREF) Next up we have KKR, which operates in the commercial real estate sector, with almost half of its holdings in the states of New York, Illinois, Pennsylvania, and Massachusetts. The company both owns and finances commercial properties; 83% of its activities are with apartment dwellings and office spaces in desirable urban locations. KKRs quality can be seen in the companys quarterly results. The liquidity position was strong KKR reported $700.6 million available at the end of 3Q20, the last quarter reported. The 56-cent EPS was up 7% sequentially, and 36% year-over-year. Further evidence of KKRs sound position came at the beginning of January, when the announced it had closed 7 new commercial loans in Q4, totaling $565.4 million. This level of activity is a clear sign that KKR is recovering from the pandemic-related economic turndown. The solid foundation put the company in position to continue its dividend which has been kept reliable for four years now. The most recent declaration, made in December, was for a 43-cent per common share dividend that was paid out in mid-January. That rate gives an annual payment of $1.72 per common share, and a robust yield of 9.7%. Covering KREF, Hayes is most impressed by the companys move back toward proactive loan origination, saying, We view 4Q20 origination activity to be in line with pre-pandemic production, and demonstrates a shift from defense to offense as transaction activity has picked up and the capital markets remain accommodative. We expect increased capital deployment to support earnings power and dividend coverage, and could potentially warrant an increase in the dividend as the macroeconomic outlook improves. To this end, Hayes gives KREF a Buy and sets a $19.50 price target that indicates ~6% growth from current levels. (To watch Hayes track record, click here) Wall Street has been keeping quiet on all things KREF, and the only other recent review also recommends a Buy. Put together, the stock has a Moderate Buy consensus rating. Meanwhile, the average price target stands at 19.26 and implies a modest ~5% upside. (See KREF stock analysis on TipRanks) Starwood Property Trust (STWD) For the third stock on Hayes list of picks, we turn to Starwood, a commercial mortgage REIT with a varied portfolio of first mortgages and mezzanine loans, in the $50 million to $500 million range. The company operates in the US and Europe, boasts a $5.9 billion market cap, and has offices in New York, London, and San Francisco. Starwoods high-end portfolio has brought it solid earnings, even during the corona recession of 2020. The company recorded $152 million in GAAP earnings for 3Q20, coming out to 53 cents per share, for gains of 8% sequentially and 6% year-over-year. With that in the background, we can note the companys dividend, which has been held steady at 48 cents per share for over two years. The last declaration was made in December, and the dividend was paid out on January 15. At the current rate, it annualizes to $1.92 and the yield is 9.23%. Once again, were looking at a stock that Hayes recommends to Buy. We view STWD to be one of the few blue chips in the commercial mREIT sector given its size, liquidity, best-in-class management team, strong balance sheet, and diversified investment platform which has consistently generated stronger ROEs than peers. To that end, STWD is one of few commercial mREITs that neither restructured its liabilities with expensive rescue capital nor cut its dividend since the onset of COVID-19, Hayes opined. Overall, there is little action on the Street heading STWD's way right now, with only one other analyst chiming in with a view on the company's prospects. An additional Buy rating means STWD qualifies as a Moderate Buy. However, the $21 average price target suggests shares will remain range bound for the foreseeable future. (See STWD stock analysis on TipRanks) To find good ideas for dividend stocks trading at attractive valuations, visit TipRanks Best Stocks to Buy, a newly launched tool that unites all of TipRanks equity insights. Disclaimer: The opinions expressed in this article are solely those of the featured analysts. The content is intended to be used for informational purposes only. It is very important to do your own analysis before making any investment.

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Trichotest Genetic Testing that Guides the Medical Treatment of Hair Loss - Yahoo Finance

New Analysis Published in Psychiatry Research

SALT LAKE CITY, Feb. 08, 2021 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. (NASDAQ:MYGN), a leader in genetic testing and precision medicine, announced today the peer-reviewed journal Psychiatry Research has published a new analysis showing the combinatorial approach available in the GeneSight Psychotropic test is better than single-gene testing at predicting patient outcomes and medication blood levels.

Myriads GeneSight test evaluates how variations in multiple genes may influence an individuals outcomes with certain FDA-approved medications commonly prescribed to treat depression, anxiety, and other psychiatric conditions.

Using data from the Genomics Used to Improve DEpression Decisions (GUIDED) randomized-controlled trial, the study evaluated the ability of the combinatorial approach available in the GeneSight Psychotropic test to predict patient outcomes and medication blood levels compared to Clinical Pharmacogenetics Implementation Consortium(CPIC) single-gene recommendations. CPIC recommendations are based on either CYP2C19 and CYP2D6, which are genes that are involved in how the body metabolizes medications commonly used to treat depression and other mental illnesses.

The study included two types of analyses:

Our analysis demonstrated the superior ability of combinatorial pharmacogenetic testing to predict variation in medication blood levels may result in improved patient outcomes, said lead author Anthony J. Rothschild, MD, the Irving S. and Betty Brudnick Endowed Chair and Professor of Psychiatry at the University of Massachusetts Medical School. We believe this study provides compelling evidence of the clinical validity of the combinatorial pharmacogenomic test for patients with major depressive disorder, who have at least one prior medication failure.

This analysis demonstrates that the combinatorial approach of the GeneSight test more accurately predicts blood drug levels and identifies more patients with significant gene-drug interactions who would be missed by single-gene testing, said Dr. Mark Pollack, chief medical officer, Myriad Neuroscience. Combinatorial pharmacogenomics like the GeneSight test should become the standard-of-care to help physicians understand gene-drug interactions that could improve care for people with depression, anxiety and other conditions.

This is the second study evaluating the combinatorial approach of the GeneSight test to be published inPsychiatry Research.The earlier study, published in May 2020, demonstrated the combinatorial approach available in the GeneSight Psychotropic test was better at predicting citalopram and escitalopram blood concentrations when compared to single-gene testing.

The GUIDED study, the largest pharmacogenomic randomized controlled trial in mental health, showed that patients whose doctors received GeneSight results had significantly improved response and remission rates from depression, compared to treatment as usual.

About Myriad NeuroscienceMyriad Neuroscience is a business unit of Myriad Genetics, Inc., (NASDAQ: MYGN), a leader in genetic testing and precision medicine. Through its GeneSight Psychotropic test, Myriad Neuroscience provides information to healthcare providers about their patients genetic variations, which may impact how they metabolize or respond to certain psychiatric medications. Learn more at genesight.com/about-myriad-neuroscience/

About The GeneSight TestMyriads GeneSight Psychotropic test is the category-leading pharmacogenomic test for depression medications. The GeneSight test can help inform doctors about genes that may impact how patients metabolize or respond to certain psychiatric medications. It has been given to more than one million patients by tens of thousands of clinicians to provide genetic information that is unique to each patient. It supplements other information considered by a doctor as part of a comprehensive medical assessment. Learn more at GeneSight.com.

About Myriad GeneticsMyriad Genetics Inc., is a leading genetic testing and precision medicine company dedicated to transforming patient lives worldwide. Myriad discovers and commercializes genetic tests that determine the risk of developing disease, accurately diagnose disease, assess the risk of disease progression, and guide treatment decisions across medical specialties where molecular diagnostics can significantly improve patient care and lower healthcare costs. For more information on how Myriad is making a difference, please visit the Company's website:www.myriad.com.

Myriad, the Myriad logo, BART, BRACAnalysis, Colaris, Colaris AP, myPath, myRisk, Myriad myRisk, myRisk Hereditary Cancer, myChoice, myPlan, BRACAnalysis CDx, Tumor BRACAnalysis CDx, myChoice CDx, Vectra, Prequel, Foresight, GeneSight, riskScore and Prolaris are trademarks or registered trademarks of Myriad Genetics, Inc. or its wholly owned subsidiaries in the United States and foreign countries. MYGN-F, MYGN-G.

Safe Harbor StatementThis press release contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act of 1995, including statements related to the Companys strategic directives under the caption "About Myriad Genetics." These "forward-looking statements" are based on management's current expectations of future events and are subject to a number of risks and uncertainties that could cause actual results to differ materially and adversely from those set forth in or implied by forward-looking statements. These risks and uncertainties include, but are not limited to: uncertainties associated with COVID-19, including its possible effects on our operations and the demand for our products and services; our ability to efficiently and flexibly manage our business amid uncertainties related to COVID-19; the risk that sales and profit margins of our molecular diagnostic tests and pharmaceutical and clinical services may decline; risks related to our ability to transition from our existing product portfolio to our new tests, including unexpected costs and delays; risks related to decisions or changes in governmental or private insurers reimbursement levels for our tests or our ability to obtain reimbursement for our new tests at comparable levels to our existing tests; risks related to increased competition and the development of new competing tests and services; the risk that we may be unable to develop or achieve commercial success for additional molecular diagnostic tests and pharmaceutical and clinical services in a timely manner, or at all; the risk that we may not successfully develop new markets for our molecular diagnostic tests and pharmaceutical and clinical services, including our ability to successfully generate revenue outside the United States; the risk that licenses to the technology underlying our molecular diagnostic tests and pharmaceutical and clinical services and any future tests and services are terminated or cannot be maintained on satisfactory terms; risks related to delays or other problems with operating our laboratory testing facilities and our healthcare clinic; risks related to public concern over genetic testing in general or our tests in particular; risks related to regulatory requirements or enforcement in the United States and foreign countries and changes in the structure of the healthcare system or healthcare payment systems; risks related to our ability to obtain new corporate collaborations or licenses and acquire new technologies or businesses on satisfactory terms, if at all; risks related to our ability to successfully integrate and derive benefits from any technologies or businesses that we license or acquire; risks related to our projections about our business, results of operations and financial condition; risks related to the potential market opportunity for our products and services; the risk that we or our licensors may be unable to protect or that third parties will infringe the proprietary technologies underlying our tests; the risk of patent-infringement claims or challenges to the validity of our patents or other intellectual property; risks related to changes in intellectual property laws covering our molecular diagnostic tests and pharmaceutical and clinical services and patents or enforcement in the United States and foreign countries, such as the Supreme Court decisions in Mayo Collab. Servs. v. Prometheus Labs., Inc., 566 U.S. 66 (2012), Assn for Molecular Pathology v. Myriad Genetics, Inc., 569 U.S. 576 (2013), and Alice Corp. v. CLS Bank Intl, 573 U.S. 208 (2014); risks of new, changing and competitive technologies and regulations in the United States and internationally; the risk that we may be unable to comply with financial operating covenants under our credit or lending agreements; the risk that we will be unable to pay, when due, amounts due under our credit or lending agreements; and other factors discussed under the heading "Risk Factors" contained in Item 1A of our most recent Annual Report on Form 10-K for the fiscal year ended June 30, 2020, which has been filed with the Securities and Exchange Commission, as well as any updates to those risk factors filed from time to time in our Quarterly Reports on Form 10-Q or Current Reports on Form 8-K. All information in this press release is as of the date of the release, and Myriad undertakes no duty to update this information unless required by law.

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GeneSight Psychotropic Test's Combinatorial Approach Proves Better than Single-Gene Testing at Predicting Patient Outcomes and Medication Blood Levels...

BEDMINSTER, N.J. and SINGAPORE, Feb. 10, 2021 /PRNewswire/ -- Tessa Therapeutics Ltd. (Tessa), a clinical-stage cell therapy company developing next-generation cancer treatments for hematological malignancies and solid tumors, today announced the successful completion of dosing of the first patient cohort (n=3) in a Phase I dose escalation study, evaluating the safety and efficacy of Tessa's TT11X Allogeneic CD30-CAR Epstein Barr Virus Specific T-cell (EBVST) therapy.

The Phase 1 study being conducted at Baylor College of Medicine aims to enroll up to 18 patients with CD30+ lymphoma across three dose levels. Study objectives are to evaluate safety and efficacy and establish dosing for the next phase. "TT11X has been administered to three patients so far at Houston Methodist Hospital with a favorable safety profile. The therapy has been well tolerated with no evidence of GVHD or any severe adverse events associated with allogeneic therapies," said Dr. Carlos Ramos, Lead Principal Investigator on the study and Professor at the Center for Cell and Gene Therapy and member of the Dan L Duncan Comprehensive Cancer Center at Baylor College of Medicine. For more information, visitwww.clinicaltrials.gov(Study Identifier NCT04288726).

Off-the-shelf, allogeneic cell therapy has significant advantages and is the next frontier in cancer treatment. Tessa is developing a unique and potentially transformational allogeneic cell therapy platform based on decades-long research and development on Virus Specific T-cells (VSTs) by Tessa's Scientific Co-Founder Dr. Malcolm Brenner and his team at Baylor College of Medicine.

"VSTs are highly specialized T cells with the ability to recognize and kill infected cells while activating other parts of the immune system for a coordinated response. Allogeneic VSTs without any form of genetic modification have demonstrated a strong safety profile and efficacy in early trials with minimal risk of graft versus host disease and graft rejection," said Malcolm Brenner, M.D., Ph.D., Founding Director of the Center for Cell and Gene Therapy at Baylor College of Medicine, Houston Methodist Hospital and Texas Children's Hospital. "The fundamental qualities of VSTs therefore make them a strong candidate for allogeneic application, and we are working closely with Tessa to advance this potential new platform therapy."

Tessa's allogeneic platform enhances inherent non-alloreactive properties of VSTs with CD30- CAR targeting. Preclinical studies have demonstrated that CD30 targeting potentially helps eliminate alloreactive T-cells and may improve allogeneic cell expansion and persistence. Tessa and Baylor College of Medicine are jointly developing this platform.

"We are quite excited about the therapeutic potential and broad applicability of our allogeneic CD30-CAR EBVST platform. The clinical progress on the ongoing study has been very encouraging and represents a significant milestone for Tessa," said Ivan D. Horak, M.D., Chief Medical Officer and Chief Scientific Officer of Tessa Therapeutics."Longer term, we aim to develop this platform to tackle solid tumors where there is significant patient need."

About Tessa Therapeutics

Tessa Therapeutics is a clinical-stage biotechnology company developing a portfolio of next-generation cell therapies for cancer. It has a pipeline of therapies in clinical development for the treatment of hematological malignancies and solid tumors.

Tessa's lead autologous therapy is in late-stage clinical development for treatment of lymphomas. It has shown strong clinical responses in patients with relapsed/refractory classical Hodgkin lymphoma, based on which it was granted the RMAT designation by the U.S. FDA and the PRIME designation by EMA.

Tessa is also developing a novel, differentiated, allogeneic "off-the shelf" cell therapy platform to create more efficacious, reliable, and scalable therapies capable of targeting a broad range of cancers. A therapy using this platform is being evaluated in an ongoing clinical trial in United States.

For more information on Tessa, please visit http://www.tessacell.com.

Cautionary Note on Forward Looking Statements

This press release contains forward-looking statements (within the meaning of the Private Securities Litigation Reform Act of 1995, to the fullest extent applicable) including, without limitation, with respect to various regulatory filings or clinical study developments of the Company. You can identify these statements by the fact that they use words such as "anticipate", "estimate", "expect", "project", "intend", "plan", "believe", "target", "may", "assume" or similar expressions. Any forward-looking statements in this press release are based on management's current expectations and beliefs and are subject to a number of risks, uncertainties and important factors that may cause actual events or results to differ materially from those expressed or implied by any forward-looking statements contained in this press release, including, without limitation, those related to the Company's financial results, the ability to raise capital, dependence on strategic partnerships and licensees, the applicability of patents and proprietary technology, the timing for completion of the clinical trials of its product candidates, whether and when, if at all, the Company's product candidates will receive marketing approval, and competition from other biopharmaceutical companies. The Company cautions you not to place undue reliance on any forward-looking statements, which speak only as of the date they are made, and disclaims any obligation to publicly update or revise any such statements to reflect any change in expectations or in events, conditions or circumstances on which any such statements may be based, or that may affect the likelihood that actual results will differ from those set forth in the forward-looking statements. Any forward-looking statements contained in this press release represent the Company's views only as of the date hereof and should not be relied upon as representing its views as of any subsequent date. The Company's products are expressly for investigational use pursuant to a relevant investigational device exemption granted by the U.S. Food & Drug Administration, or equivalent competent body.

SOURCE Tessa Therapeutics

http://www.tessacell.com

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Tessa Therapeutics Announces Successful Dosing of First Patient Cohort in Phase I Allogeneic Cell Therapy Trial - PRNewswire

China is banking on genetics as the next frontier of modern healthcare. From genetic testing and sequencing to gene therapy and precision medicine, this range of transformative technologies and services can underpin medical treatments and inform lifestyle choices.

Precision medicine -- using genetic information to determine treatments -- enables healthcare to move away from a one-size-fits-all approach where patients are treated with the same therapy, to one where targeted treatments are based on a patient's DNA and biomarkers.

The Chinese government and private sector are leading the charge globally, encouraging nationwide collection of DNA samples and investing in data analysis tools.

The Beijing Genome Institute, the world's largest sequencer and repository of genetic material, says it is capable of decoding the entire genomes of 100,000 people a year for no more than US$100 per person. In 2017, genetic testing was listed in China's 13th Five-Year Plan as one of the key growth strategies for the life sciences sector.

While some companies continue to work on breakthrough technology for whole-genome sequencing, others are focusing on the direct-to-consumer DNA test industry that only analyses small sections of a person's DNA. These consumer tests are marketed at younger people who are interested in their genealogy or are seeking health predictions and suggestions for lifestyle adjustments.

For as little as $3, you can provide a saliva sample to a company in exchange for information such as risks of developing chronic illnesses, how to lose weight and how to care for your skin. This market is expected to generate sales of $405 million in China by next year.

Last December, the consumer genetic testing company Genebox raised $14 million in financing. It has lowered the price a DNA test to 19.90 yuan ($3) since entering the market in 2018. More than 2.2 million people in China had used Genebox's service as of the end of 2019. This number is forecast to increase to 56.8 million by 2022, according to the consultancy Yi Ou.

As mass-market genetic testing becomes more commonplace, and the Chinese government ramps up efforts to develop its national DNA database, observers have raised the issue of privacy and personal data protection.

Companies such as Genebox have committed to not sharing personal information with third parties. However, exceptions exist, including having to comply with laws and regulations, as well as sharing user data with subsidiaries and related organisations for medical research and product development purposes.

Currently, China does not have specific legislation in place to protect personal data, including genetic data, at the national level. However, regulations are being developed. The Standing Committee of the National People's Congress of China has outlined a legislative agenda for a data protection law that is set to be enacted next year.

Overcoming data privacy concerns will be key to unleashing the full benefits of genetic testing. Structural efforts should be made to overcome these issues, such as transparency over how such powerful personal data is used. Close collaboration is needed between genetic testing companies, doctors, patient rights advocates, regulatory agencies and insurers.

Although precision medicine is still in its infancy, it is attracting great interest, including from Thailand. I hope the new privacy laws due to be introduced this year are broad enough to cover these emerging technologies so that we are ready to protect people once they become mainstream.

Originally posted here:
Genetics the next frontier of healthcare - Bangkok Post - Bangkok Post

Breast cancer specialists are welcoming information from two, recently-released studies that estimated risks for the disease from certain genetic variants and mutations.

These studies provide welcome information outlining estimated risks of breast cancer in less well-studied genes, said Baystate Healths Dr. Grace Makari-Judson. Many of these genes are considered as low-to-moderate penetrance genes, meaning that most people that inherit these genes will still not develop cancer. This was substantiated when testing women with known breast cancer compared to those tested purely on family history.

Makari-Judson, an oncologist, is associate medical director for cancer services, and medical director of the family cancer risk program in the Baystate Regional Cancer Program.

Of the limitations of the studies, published in the New England Journal of Medicine, Makari-Judson added, The more information we have, the better we can counsel women, but more research is needed to obtain accurate estimates of lifetime risk of cancer and to understand how well risk-reducing strategies and increased surveillance work in these specific populations.

Her comments were echoed by Dr. Nada Kawar of Mercy Medicals Center for Breast Health and Gynecologic Oncology who called the studies overall both very helpful, but not practice-changing.

The studies provide more numerical values to tell patients as I counsel them and the question of whether they decide to change their clinical management, change the kind of surgery they have or whether they decide to take medication to help decrease their risk, that will have to be a discussion, said Kawar, who specializes in cancers of the breast and reproductive system as a gynecologic oncologist.

It will not dramatically change our practice now because a lot of these genes have already been identified, but we will have more definitive numbers to quantified the risk.

One of the studies looks to better inform genetic counseling on the overall risk ratio for breast cancer associated with certain genetic variants, as well as risk for type of breast cancer and what genes are most clinically useful for inclusion on a panel to predict risk.

Funded by the European Union Horizon 2020 programs among others and involving a large number of researchers, the study analyzed samples from 60,466 women with breast cancer and 53,461 women who did not as the control group. Its results included finding certain variants associated with a higher risk for estrogen-receptor positive breast cancer compared to ER-negative while others showed higher risk for ER-negative breast cancer.

The other study, funded by the National Institutes of Health and the Breast Cancer Research Foundation, looks to provide estimates of breast cancer risk linked to genetic alterations in known breast-cancer disposition genes, including the BRCA 1 and 2 genes, in the U.S. population, and to better inform screening and clinical management strategies for them.

This study involved 32,247 women with breast cancer and 32,544 who did not as the control group, and sequenced a custom multigene panel to identify germ line pathogenic variants in 28 cancer-predisposition genes. Pathogenic variants in 12 established breast cancerpredisposition genes were detected in 5.03% of the breast cancer cases and in 1.63% of those without breast cancer. Pathogenic variants in the genes known as BRCA1 and BRCA2 were associated with a high risk of breast cancer, with odds ratios shown in the study of 7.62, and 5.23 respectively.

Over recent years, we have evolved from testing of BRCA1 and 2, to testing of smaller 8 to 10 gene panels to now testing which includes upwards of 27 to 77 genes, Makari-Judson said.

The more genes we test, the more likely it is that we identify a gene that we have limited information to quantitate lifetime breast cancer risk. The information on effective strategies to prevent or effectively screen for cancer in individuals with these genetic variants is even more limited.

Asked about how the new information might help inform a womans treatment decision, she presented an example of how this comes up in counseling a woman who has inherited a moderate-risk gene that is associated with lifetime risk of 20-25%.

This is higher than the average women, whose risk is 13%, but much lower than the risks associated with BRCA1 that could be as high as 70 to 80%, Makari-Judson said.

Is it worth having a preventative mastectomy when the odds are that this woman would never have breast cancer? Other strategies include watching a woman more closely for example, with breast MRI and considering taking risk-reducing anti-estrogen medications such tamoxifen, raloxifene or an aromatase inhibitor. This approach makes more sense even though these strategies have not been specifically studied in many of these hereditary syndromes.

Kawar noted as well that a lot of these genes in the NIH study have been previously identified and are tested for, but that the study gives patients a little bit more odds ratio.

We have not been able to necessarily quantify the risks as much and this does give us more of a way to do that and give patients a little bit more odds ratio, their risk of getting cancer more than others, Kawar said.

This does help in a discussion of how to approach any further treatments, medication, surgeries.

Kawar said there has been an explosion in genetic information in the last 10 years, helped in part by the fact the Supreme Court in 2013 said isolated human genes could not be patented.

A lot of different companies were able to begin sequencing, said Kawar, adding this allowed for better identification of genes and their function.

Kawar said genetic testing for cancer looks for mutation in that original genetic code.

Dr. Nada Kawar specializes in cancers of the breast, cervix, endometrium/uterus, fallopian tube, ovary, vagina and vulva as a gynecologic oncologist, and practices at what is now Mercy Medical's Center for Breast Health and Gynecologic Oncology, formerly its Breast Care Center.

This is where they take blood samples from patients and what is tested is the genetic information you inherited to see if there are mutations in that original genetic code you got from your parents, Kuwar said.

This can be done from a cheek swab or a blood test, which we use at Mercy because it is easy and patients can just go to the lab here and get their blood drawn in a tube that comes in a kit provided by the company doing the testing and that is then mailed to them. The company runs the DNA in these panels where they are checking for mutations in multiple genes within the DNA of the sample collected. The most common breast genes would be checked.

Kawar added, The genetic testing company we used at Mercy is Ambry and they have a panel of 68 genes, some of which are affiliated with breast cancer, some of which are not but in order for us to learn about what cancers are associated with what genes it requires us to collect that data on patients that develop cancer.

Everyone has changes in their genes, Kawar said.

It is whether or not those changes cause a change in the function of the gene in the protein it produces and whether that then develops a problem that can lead to cancer developing.

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