PLYMOUTH MEETING, Pa., Dec. 4, 2019 /CNW/ --The National Comprehensive Cancer Network (NCCN) today announced publication of the newest genetic risk assessment recommendations for breast, ovarian and pancreatic cancers. The NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Version 1.2020 contains several updatesincluding new and expanded sections on risk assessment and management related to three major cancer typeswhile also maintaining a more conservative approach toward testing practices where the evidence is still lacking. In the rapidly-moving field of cancer care and genetics, NCCN Guidelines synthesize the latest evidence and expert consensus to ensure recommendations are firmly supported by quality research, in order to establish best management paradigms that improve outcomes for people with cancer.

"These guidelines are as inclusive as possible, wherever there's strong, unbiased evidence to back up our recommendations," said Mary B. Daly, MD, PhD, FACP, Fox Chase Cancer Center, Chair of the NCCN Guidelines Panel for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. "The guidelines include genes that have been found to increase cancer-susceptibility. These NCCN Guidelines still have a strong focus on BRCA1 and 2 mutations, but also now include other high and moderate penetrance genes associated with breast, ovarian, and pancreatic cancer. We continuously review any new data on genes that might increase a person's risk of getting cancer or impact the effectiveness of their treatment."

The updated guidelines are concentrated around simplified criteria to clarify the genetic testing process. For example, in a newly-added guide for individuals of Ashkenazi Jewish ancestry who have not been diagnosed with cancer, genetic testing may be offered for the three Ashkenazi Jewish founder mutations in the context of a long-term research study, regardless of family history. These individuals should be encouraged to consult with a cancer genetics professional.

The NCCN Guidelines for Genetic/Familial High-Risk Assessment are organized by both disease and syndrome type, and also now include streamlined information on appropriate subsequent steps for persons who meet criteria for genetic testing. The panel acknowledges that genetic mutations can impact the approach to cancer treatment, and the guidelines now state that testing may be clinically indicated if it will aid in systemic therapy decision-making.

"Genetic testing is becoming increasingly utilized in oncology because of its potential to impact surgical decisions and chemotherapy," explained Robert Pilarski, MS, LGC; MSW, Licensed Genetic Counselor, Professor, Clinical Internal Medicine, The Ohio State University Comprehensive Cancer Center, Vice-Chair of the NCCN Guidelines Panel for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. "At the same time, the complexity of this testing is increasing, with a growing number of genes and tests available,a limited understanding of the management implications of some of the newer genes, and even uncertainty over the implications of mutations in well-established genes in some situations (for example in a condition known as 'mosaicism,' in which the mutation is not present in all of the cells of the body). Because of this, the NCCN Guidelines continue to highlight the critical importance of genetic counseling for patients prior to undergoing genetic testing to ensure that patients are fully informed of the test implications."

Pilarski also offered an important word of caution about the potential risks from direct-to-consumer genetic testing: "More and more patients are presenting to clinic having already had themselves tested through direct-to-consumer labs. Providers need to be aware that the tests offered by many of these labs are not equivalent to traditional genetic testing, and the results may need to be confirmed in another laboratory before being used for clinical care."

The guidelines recommend all pancreatic cancer patients get genetic testing, and the recent update now includes more information about which genes are associated with pancreatic cancer recommendations. Genetic testing in pancreatic cancer can help determine which treatments would be most effective (e.g. PARP inhibitors) and if family members would benefit from screening and preventive action.

"There's been an explosion of recent data showing that roughly 4-10% of individuals with pancreatic cancer harbor inherited genetic mutations, including BRCA1, BRCA2, ATM, the Lynch syndrome genes, and others," said Matthew B. Yurgelun, MD, Dana-Farber/Brigham and Women's Cancer Center, Member of the NCCN Guidelines Panel for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. "Such data have, surprisingly, shown that classic 'high-risk' features of inherited cancer risk (e.g. young age at diagnosis, strong family histories of cancer) are often absent in individuals with pancreatic cancer who carry these mutations. Based off of these data, there is now a compelling reason for all individuals with pancreatic cancer to be offered genetic counseling and germline testing for such variantsparticularly given the possibility that their at-risk family members could greatly benefit from known, effective cancer risk-reducing interventions (e.g. surgical removal of the ovaries for female BRCA1/2 mutation carriers). Emerging data have also begun to suggest possible benefits to pancreatic cancer screening in select high-risk individuals who harbor such mutations. These new guidelines address many of the important nuances and limitations of this exciting and rapidly evolving body of literature."

The NCCN Guidelines for Genetic/Familial High-Risk Assessment are created and maintained by an interdisciplinary panel of experts from the alliance of 28 leading cancer centers that comprise NCCN. NCCN panels also include patients and advocates to make sure treatment recommendations meet the needs of people with cancer and their caregivers.

"Participating on the NCCN panel allows FORCE to share the real-world experiences of patients making complex, and often agonizing medical decisions about hereditary cancer treatment and risk management," said Sue Friedman, DVM, Executive Director, Facing Our Risk of Cancer Empowered (FORCE), Member of the NCCN Guidelines Panel for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. "As an advocacy organization for people and families affected by hereditary cancer, we see the importance of having standardized guidelines. These guidelines are a critical piece of informed decision-making; we frequently direct our community to NCCN for up-to-date, clear, and credible information developed by experts in the field."

NCCN Guidelines are the recognized standard for clinical policy in cancer care and are the most thorough and frequently updated clinical practice guidelines available in any area of medicine. The intent of the NCCN Guidelines is to assist in the decision-making process of individuals involved in cancer careincluding physicians, nurses, pharmacists, payers, patients and their familieswith the ultimate goal of improving patient care and outcomes. In addition to covering at least 97 percent of cancers affecting patients in the United States, there are also NCCN Guidelines for detection, prevention, risk-reduction (including smoking cessation), supportive care (including the management of pain, distress, and fatigue), and guidelines for specific populations (including children and young adults).

NCCN Guidelines are available free-of-charge for non-commercial use at NCCN.org, or via the Virtual Library of NCCN Guidelines App.

About the National Comprehensive Cancer NetworkThe National Comprehensive Cancer Network (NCCN) is a not-for-profit alliance of 28 leading cancer centers devoted to patient care, research, and education. NCCN is dedicated to improving and facilitating quality, effective, efficient, and accessible cancer care so patients can live better lives. Through the leadership and expertise of clinical professionals at NCCN Member Institutions, NCCN develops resources that present valuable information to the numerous stakeholders in the health care delivery system. By defining and advancing high-quality cancer care, NCCN promotes the importance of continuous quality improvement and recognizes the significance of creating clinical practice guidelines appropriate for use by patients, clinicians, and other health care decision-makers around the world.

The NCCN Member Institutions are: Abramson Cancer Center at the University of Pennsylvania, Philadelphia, PA; Fred & Pamela Buffett Cancer Center, Omaha, NE; Case Comprehensive Cancer Center/University Hospitals Seidman Cancer Center and Cleveland Clinic Taussig Cancer Institute, Cleveland, OH; City of Hope National Medical Center, Duarte, CA; Dana-Farber/Brigham and Women's Cancer Center | Massachusetts General Hospital Cancer Center, Boston, MA; Duke Cancer Institute, Durham, NC; Fox Chase Cancer Center, Philadelphia, PA; Huntsman Cancer Institute at the University of Utah, Salt Lake City, UT; Fred Hutchinson Cancer Research Center/Seattle Cancer Care Alliance, Seattle, WA; The Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, MD; Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Chicago, IL; Mayo Clinic Cancer Center, Phoenix/Scottsdale, AZ, Jacksonville, FL, and Rochester, MN; Memorial Sloan Kettering Cancer Center, New York, NY; Moffitt Cancer Center, Tampa, FL; The Ohio State University Comprehensive Cancer Center - James Cancer Hospital and Solove Research Institute, Columbus, OH; O'Neal Comprehensive Cancer Center at UAB, Birmingham, AL; Roswell Park Comprehensive Cancer Center, Buffalo, NY; Siteman Cancer Center at Barnes-Jewish Hospital and Washington University School of Medicine, St. Louis, MO; St. Jude Children's Research Hospital/The University of Tennessee Health Science Center, Memphis, TN; Stanford Cancer Institute, Stanford, CA; UC San Diego Moores Cancer Center, La Jolla, CA; UCSF Helen Diller Family Comprehensive Cancer Center, San Francisco, CA; University of Colorado Cancer Center, Aurora, CO; University of Michigan Rogel Cancer Center, Ann Arbor, MI; The University of Texas MD Anderson Cancer Center, Houston, TX; University of Wisconsin Carbone Cancer Center, Madison, WI; Vanderbilt-Ingram Cancer Center, Nashville, TN; and Yale Cancer Center/Smilow Cancer Hospital, New Haven, CT.

Clinicians, visit NCCN.org. Patients and caregivers, visit NCCN.org/patients. Media, visit NCCN.org/news. Follow NCCN on Twitter @NCCN, Facebook @NCCNorg, and Instagram @NCCNorg.

Media Contact: Rachel Darwin267-622-6624darwin@nccn.org

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Updated Genetic Screening Guidelines Published by National Comprehensive Cancer Network Feature Emerging Evidence on Personalized Medicine - Daily...

BOTHELL, Wash.--(BUSINESS WIRE)--Seattle Genetics, Inc. (Nasdaq:SGEN) today announced updated and long-term follow-up analyses from two clinical trials evaluating ADCETRIS (brentuximab vedotin) and OPDIVO (nivolumab) in frontline Hodgkin lymphoma (HL) patients aged 60 years and older and in relapsed or refractory classical HL. ADCETRIS is an antibody-drug conjugate (ADC) directed to CD30, a defining marker of classical HL. ADCETRIS and OPDIVO are not approved in combination for the treatment of HL. Results were presented today at the 61st American Society of Hematology (ASH) Annual Meeting and Exposition taking place December 7-10 in Orlando, Fla.

We continue to evaluate ADCETRIS in combination with novel therapies, such as checkpoint inhibitors, with the goal of identifying new options for CD30-expressing lymphomas where there is high unmet need, said Roger Dansey, M.D., Chief Medical Officer at Seattle Genetics. These data presentations at ASH reinforce our strong commitment to the ADCETRIS clinical development program, potentially moving into new patient populations and novel combination treatment strategies.

Phase 2 Study of Frontline Brentuximab Vedotin Plus Nivolumab in Patients with Hodgkin Lymphoma Aged 60 Years (Abstract #237, oral presentation at 2:30 p.m. ET on Saturday, December 7, 2019)Data were presented from an updated analysis from the phase 2 clinical trial evaluating ADCETRIS in combination with OPDIVO as frontline therapy for HL patients aged 60 years and older. Data were reported from 21 patients, and the median age was 72 years. The majority of patients (76 percent) had stage III/IV disease at the time of diagnosis. These results will be highlighted in an oral presentation by Christopher A. Yasenchak, M.D., Willamette Valley Cancer Institute and Research Center/US Oncology Research, Ore., and include:

Two-Year Follow-up Results from the Phase 1-2 Study of Brentuximab Vedotin in Combination with Nivolumab in Patients with Relapsed or Refractory Classical Hodgkin Lymphoma (Abstract #238, oral presentation at 2:45 p.m. ET on Saturday, December 7, 2019)Data were reported from 93 patients with relapsed or refractory classical HL after failure of frontline therapy who received the combination regimen of ADCETRIS plus OPDIVO. After completion of the fourth cycle of treatment, patients were eligible to undergo an autologous stem cell transplant (ASCT). The median age of patients was 34 years. These results will be highlighted in an oral presentation by Alison J. Moskowitz, M.D., Memorial Sloan Kettering Cancer Center, NY, and include:

About Classical Hodgkin LymphomaLymphoma is a general term for a group of cancers that originate in the lymphatic system. There are two major categories of lymphoma: Hodgkin lymphoma and non-Hodgkin lymphoma. Classical Hodgkin lymphoma is distinguished from other types of lymphoma by the presence of one characteristic type of cell, known as the Reed-Sternberg cell. The Reed-Sternberg cell expresses CD30.

According to the American Cancer Society, approximately 8,110 cases of Hodgkin lymphoma will be diagnosed in the United States during 2019 and 1,000 will die from the disease. Approximately half of all newly diagnosed Hodgkin lymphoma patients have Stage III/IV disease. According to the Lymphoma Coalition, over 62,000 people worldwide are diagnosed with Hodgkin lymphoma each year and approximately 25,000 people die each year from this cancer.

About ADCETRISADCETRIS is being evaluated broadly in more than 70 clinical trials in CD30-expressing lymphomas. These include three completed phase 3 trials: ECHELON-2 trial in frontline peripheral T-cell lymphomas, ECHELON-1 in previously untreated Hodgkin lymphoma, and ALCANZA in cutaneous T-cell lymphoma.

ADCETRIS is an ADC comprising an anti-CD30 monoclonal antibody attached by a protease-cleavable linker to a microtubule disrupting agent, monomethyl auristatin E (MMAE), utilizing Seattle Genetics proprietary technology. The ADC employs a linker system that is designed to be stable in the bloodstream but to release MMAE upon internalization into CD30-expressing tumor cells.

ADCETRIS injection for intravenous infusion has received FDA approval for six indications in adult patients with: (1) previously untreated systemic anaplastic large cell lymphoma (sALCL) or other CD30-expressing peripheral T-cell lymphomas (PTCL), including angioimmunoblastic T-cell lymphoma and PTCL not otherwise specified, in combination with cyclophosphamide, doxorubicin, and prednisone, (2) previously untreated Stage III or IV classical Hodgkin lymphoma (cHL), in combination with doxorubicin, vinblastine, and dacarbazine, (3) cHL at high risk of relapse or progression as post-autologous hematopoietic stem cell transplantation (auto-HSCT) consolidation, (4) cHL after failure of auto-HSCT or failure of at least two prior multi-agent chemotherapy regimens in patients who are not auto-HSCT candidates, (5) sALCL after failure of at least one prior multi-agent chemotherapy regimen, and (6) primary cutaneous anaplastic large cell lymphoma (pcALCL) or CD30-expressing mycosis fungoides (MF) who have received prior systemic therapy.

Health Canada granted ADCETRIS approval with conditions in 2013 for patients with (1) HL after failure of autologous stem cell transplant (ASCT) or after failure of at least two multi-agent chemotherapy regimens in patients who are not ASCT candidates and (2) sALCL after failure of at least one multi-agent chemotherapy regimen. Non-conditional approval was granted for (3) post-ASCT consolidation treatment of patients with HL at increased risk of relapse or progression in 2017, (4) adult patients with pcALCL or CD30-expressing MF who have received prior systemic therapy in 2018, (5) for previously untreated patients with Stage IV HL in combination with doxorubicin, vinblastine, and dacarbazine in 2019, and (6) for previously untreated adult patients with sALCL, peripheral T-cell lymphoma-not otherwise specified (PTCL-NOS) or angioimmunoblastic T-cell lymphoma (AITL), whose tumors express CD30, in combination with cyclophosphamide, doxorubicin, prednisone in 2019.

ADCETRIS received conditional marketing authorization from the European Commission in October 2012. The approved indications in Europe are: (1) for the treatment of adult patients with relapsed or refractory CD30-positive Hodgkin lymphoma following ASCT, or following at least two prior therapies when ASCT or multi-agent chemotherapy is not a treatment option, (2) for the treatment of adult patients with relapsed or refractory sALCL, (3) for the treatment of adult patients with CD30-positive Hodgkin lymphoma at increased risk of relapse or progression following ASCT, (4) for the treatment of adult patients with CD30-positive cutaneous T-cell lymphoma (CTCL) after at least one prior systemic therapy and (5) for the treatment of adult patients with previously untreated CD30-positive Stage IV Hodgkin lymphoma in combination with AVD (Adriamycin, vinblastine and dacarbazine).

ADCETRIS has received marketing authorization by regulatory authorities in 73 countries for relapsed or refractory Hodgkin lymphoma and sALCL. See select important safety information, including Boxed Warning, below.

Seattle Genetics and Takeda are jointly developing ADCETRIS. Under the terms of the collaboration agreement, Seattle Genetics has U.S. and Canadian commercialization rights and Takeda has rights to commercialize ADCETRIS in the rest of the world. Seattle Genetics and Takeda are funding joint development costs for ADCETRIS on a 50:50 basis, except in Japan where Takeda is solely responsible for development costs.

About Seattle GeneticsSeattle Genetics, Inc. is an emerging multi-product, global biotechnology company that develops and commercializes transformative therapies targeting cancer to make a meaningful difference in peoples lives. ADCETRIS (brentuximab vedotin) utilizes the companys industry-leading antibody-drug conjugate (ADC) technology and is currently approved for the treatment of multiple CD30-expressing lymphomas. Beyond ADCETRIS, the company has a late-stage pipeline including enfortumab vedotin for metastatic urothelial cancer, currently being reviewed for approval by the FDA, and tisotumab vedotin in clinical trials for metastatic cervical cancer, which utilize our proprietary ADC technology. In addition, tucatinib, a small molecule tyrosine kinase inhibitor, is in late-stage development for HER2-positive metastatic breast cancer and in clinical development for metastatic colorectal cancer. We are also leveraging our expertise in empowered antibodies to build a portfolio of proprietary immuno-oncology agents in clinical trials targeting hematologic malignancies and solid tumors. The company is headquartered in Bothell, Washington, and has a European office in Switzerland. For more information on our robust pipeline, visit http://www.seattlegenetics.com and follow @SeattleGenetics on Twitter.

ADCETRIS (brentuximab vedotin) U.S. Important Safety Information

BOXED WARNINGPROGRESSIVE MULTIFOCAL LEUKOENCEPHALOPATHY (PML): JC virus infection resulting in PML and death can occur in ADCETRIS-treated patients.

ContraindicationADCETRIS concomitant with bleomycin due to pulmonary toxicity (e.g., interstitial infiltration and/or inflammation).

Warnings and Precautions

Most Common (20% in any study) Adverse Reactions: Peripheral neuropathy, fatigue, nausea, diarrhea, neutropenia, upper respiratory tract infection, pyrexia, constipation, vomiting, alopecia, decreased weight, abdominal pain, anemia, stomatitis, lymphopenia and mucositis.

Drug InteractionsConcomitant use of strong CYP3A4 inhibitors or inducers has the potential to affect the exposure to monomethyl auristatin E (MMAE).

Use in Specific PopulationsModerate or severe hepatic impairment or severe renal impairment: MMAE exposure and adverse reactions are increased. Avoid use.

Advise males with female sexual partners of reproductive potential to use effective contraception during ADCETRIS treatment and for at least 6 months after the final dose of ADCETRIS.

Advise patients to report pregnancy immediately and avoid breastfeeding while receiving ADCETRIS.

Please see the full Prescribing Information, including BOXED WARNING, for ADCETRIS here.

Forward Looking StatementsCertain of the statements made in this press release are forward looking, such as those, among others, relating to the potential uses and benefits of ADCETRIS (brentuximab vedotin) in combination with OPDIVO (nivolumab) in frontline Hodgkin lymphoma (HL) patients age 60 years or older and in relapsed or refractory classical HL under staggered and concurrent dosing schedules, the therapeutic potential of ADCETRIS in these indications and the companys clinical development plans. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include potential lack of efficacy or risk of adverse events associated with the use of ADCETRIS in certain clinical settings and the difficulty and uncertainty of pharmaceutical product development. More information about the risks and uncertainties faced by Seattle Genetics is contained under the caption Risk Factors included in the companys Quarterly Report on Form 10-Q for the quarter ended September 30, 2019 filed with the Securities and Exchange Commission. Seattle Genetics disclaims any intention or obligation to update or revise any forward-looking statements, whether as a result of new information, future events or otherwise, except as required by law.

Opdivo is a registered trademark of Bristol-Myers Squibb Company.

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Seattle Genetics Announces Updated Data of ADCETRIS (Brentuximab Vedotin) in Combination with OPDIVO (Nivolumab) in Frontline and Relapsed or...

Global Human Genetics Market Size, Status and Forecast 2019-2025is latest research study released by HTF MI evaluating the market, highlighting opportunities, risk side analysis, and leveraged with strategic and tactical decision-making support. The influencing Factors of the report is growth of this market include authorized regulations with respect to the usage of the information, availability of highly reliable products in the market, and increase in operational efficiency of.The study provides information on market trends and development, drivers, capacities, technologies, and on thechanging dynamics of Global Human Genetics Market. As per study key players of this market are QIAGEN, Agilent Technologies, Thermo Fisher Scientific, Illumina, Promega, LabCorp & GE.

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#Summary:In 2018, the global Human Genetics market size was xx million US$ and it is expected to reach xx million US$ by the end of 2025, with a CAGR of xx% during 2019-2025.

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Human Genetics Market: Competitive Landscape & Growth Opportunities | QIAGEN, Agilent Technologies, Thermo Fisher Scientific - Kentucky Reports

Veritas Genetics had big plans to lower the price of sequencing the human genome, making it on par with the price of buying an Apple Watch or a fancy dinner.

The company, which was the first in the world to map out a person's DNA for less than $1,000 back in 2016, just shared with customers via email that it is ceasing operations in the U.S.

"Due to an unexpected adverse financing situation, we are being forced to suspend our operations in the U.S. for the time being," the email, which was viewed by CNBC, reads. "We are currently assessing all paths forward, including strategic options."

The company also laid off the bulk of its employees based in the U.S., about 50 people, earlier this week, according to a source familiar with the company. The source asked not to be named because they were not authorized to speak for Veritas Genetics.

"I can clarify this temporarily affects U.S. operations only," a spokesperson for the company said. "All of the customers outside of the U.S. will continue to be served by Veritas Europe and Latin America."

Veritas, which made this year's CNBC Disruptor 50 list, hoped to expand to millions more consumers in the coming years by bringing down the price of whole genome sequencing to just a few hundred dollars. It raised more than $50 million in financing since it got its start in 2015.

But the company's investors, including Simcere Pharmaceutical and Lilly Asia Ventures, are based in China, at a time when the Trump administration is cracking down on Chinese firms making investments in U.S. companies. Earlier this year, the Committee on Foreign Investment in the United States,or CFIUS, forced a health-tech company called PatientsLikeMe to find a buyer after ordering its Chinese owner to divest its stake. PatientsLikeMe eventually sold to UnitedHealth.

For Veritas, it meant that new investors who were interested in the business got skittish because of the potential for oversight from CFIUS, according to the person familiar with the company. As a result, Veritas has also been in talks with potential acquirers in recent months, said the person.

If Veritas is able to figure out a path forward, it hopes to be competitive with companies such as Ancestry and 23andMe by offering more information for about the same price. 23andMe has dabbled with offering sequencing to its customers, but currently provides only genotyping services, meaning it looks at specific parts of the genome which are known to be associated with a certain condition or trait.

While 23andMe and Ancestry primarily sell tests for people interested in their ancestral composition and wellness traits, Veritas has long stressed that it's different because it provides potentially actionable insights into its users' health.

Veritas' decision to stop selling its tests in the U.S. comes as other consumer-facing DNA testing companies report that sales have slowed. One potential factor is that people have grown more concerned about protecting their privacy, especially in the wake of high-profile news events such as the Golden State Killer case. That stoked fears about whether individuals could be found and convicted for past crimes based on distant relatives' DNA.

But for Veritas, which bills itself as more of a medical company, sales of its tests have been increasing since it dropped its price in July, according to the person familiar.

Veritas in November experienced a security breach that included some customer information, the start-up confirmed to Bloomberg. The company stressed that only a handful of people were affected.

Follow @CNBCtech on Twitter for the latest tech industry news.

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Veritas Genetics, the start-up that can sequence a human genome for less than $600, ceases US operations and is in talks with potential buyers - CNBC

The GenomeAsia 100K consortium analyzed the genomes of 1,739 people, which represents the widest coverage of genetic diversity in Asia to date.

The study covers 64 different countries and provides what the authors call the first comprehensive genetic map for Asia that will guide scientists in studying diseases unique to Asians, improve precision medicine and identify drugs that may carry higher risk of adverse reactions for certain ethnic groups.

Despite forming over 40 per cent of the worlds population, Asian people have previously accounted for only six per cent of the worlds recorded genome sequences.

The goal of GenomeAsia 100K, which launched in 2016, is to better understand the genome diversity of Asian ethnicities by sequencing 100,000 genomes of people living in Asia. It is a non-profit consortium hosted by Nanyang Technological University, Singapore (NTU Singapore), the only academic member. Its three other members are Macrogen based in South Korea, Genentech, a member of the Roche Group in United States, and MedGenome from India/US.

NTU Professor Stephan C. Schuster, the consortiums scientific chairman and a co-leader of the study, explained the significance of GenomeAsia 100Ks initial findings on the vast genomic diversity in Asia: To put it into context, imagine we looked at all people of European and based on the level of their genetic diversity, observed that they could all be grouped into just one ancestral lineage or population. Now, if we took that same approach with our new data from people of Asian, then based on the much higher levels of genetic diversity observed we would say that there are 10 different ancestral groups or lineages in Asia.

Schuster added, GenomeAsia 100K is a significant and far-reaching project that will affect the well-being and health of Asians worldwide, and it is a great honour for Singapore and NTU to be hosting it.

Executive Chairman of GenomeAsia 100K, Mahesh Pratapneni said, The publication of this pilot study is a first milestone for GenomeAsia 100K, which is an unprecedented collaboration between academia and industry leaders in the field of genomics. We are certain more partners will join GenomeAsia 100K to accelerate medical breakthroughs for people of Asian heritage.

Chairman and CEO of MedGenome, the largest genomics and molecular diagnostics provider in South Asia with facilities in the US, Singapore and across India, Sam Santhosh, said, "We are excited that over 1000 whole genome sequence data from the Indian sub-continent will now be available to researchers; this is an initial step in covering the underrepresented geographies."

Prof Jeong-Sun Seo, at Seoul National University Bundang Hospital Consortium scientific co-chair and Chairman of Macrogen, said, I hope this Asian-focused study serves as a stepping stone for the democratization of health care and precision medicine in Asia.

How the database of Asian genomes was formed

Over the course of the last three decades prior to the pilot project, thousands of blood and saliva samples have already been collected by scientists and anthropologists from donors across Asia in hopes that one day, a deeper analysis to gain insights into the Asian community can be done.

Of particular interest were participants from remote and isolated communities, who have long been the subjects of study by anthropologists but have not yet undergone genomic analysis, until the GenomeAsia 100K project was kickstarted.

The pilot study included 598 genomes from India, 156 from Malaysia, 152 from South Korea, 113 from Pakistan, 100 from Mongolia, 70 from China, 70 from Papua New Guinea, 68 from Indonesia, 52 from the Philippines, 35 from Japan, and 32 from Russia.

Genomic DNA extracted from the blood and saliva samples was then sequenced in laboratories of the four consortium members in the US, India, South Korea and Singapore. The digital sequencing data were subsequently sent to Singapore for processing and storage.

Singapore was selected by the consortium as the host, as the country offered good travel connections for collaborating scientists, strong supercomputing facilities to crunch the data, and the required cybersecurity standards in its data centre for handling sensitive genetic data.

The combined data was compiled and analyzed by NTU scientists, including Assistant Professor Hie Lim Kim, a population genomics expert at the Asian School of The Environment, with the help of the National Supercomputing Centre Singapore (NSCC) and international collaborators.

Different Asian ethnic groups respond differently to mainstream drugs

Every person has approximately 3.2 billion different nucleotides, or building blocks, in their genome, which form their DNA code.

Its estimated that for the genomes of any two people, 99.9 per cent of this code is the same and on average, 0.1 per cent or three million nucleotides, are different between them.

This genetic variance help humankind colonize the most diverse environments on the planet and make it resilient to disease, but it also results in differential response to many medicines.

Genetic variance is the reason we are distinctively different from each other including differences in the diseases that each of us suffer from during our lifetimes. Understanding these differences is the most important source of clues that we have for driving the discovery of innovative new medicines, said Dr Andrew Peterson, an author of the paper and an expert in the use of genetics to drive drug discovery.

Peterson was head of Molecular Biology at Genentech while this work was being carried out, is now Chief Scientific Officer at MedGenome, where he leads drug discovery efforts at MedGenomes Seven Rivers Genomic Medicines division.

The frequencies of known genetic variants related to adverse drug response were analyzed for the genomes collected in this study.

For example, warfarin, a common anticoagulant drug prescribed to treat cardiovascular diseases, likely has a higher than usual risk of adverse drug response for people carrying a certain genetic variant. This particular genetic variant has a higher frequency to appear in those with North Asian ancestry, such as Japanese, Korean, Mongolian or Chinese.

Using data analysis, scientists can now screen populations to identify groups that are more likely to have a negative predisposition to a specific drug.

Knowing a persons population group and their predisposition to drugs is extremely important if personalized medicine is to work, stressed Prof Schuster: For precision medicine to be precise, you need to know precisely who you are.

Hie Lim Kim, who leads the projects efforts in population genetics, added: Only by sequencing the entire genome of an individual can a persons ancestry and genetic background be known. Their genome explains why some people are afflicted by certain diseases while others arent. Scientists know that there is no single drug that works well for everybody and our latest findings not only reinforce this, but suggest how specific groups could be harmed by specific medicines.

Moving forward, the GenomeAsia 100K will continue to collect and analyze up to 100,000 genomes from all of Asias geographic regions, in order to fill in the gaps on the worlds genetic map and to account for Asias unexpected genetic diversity.

Reference

GenomeAsia100K Consortium. (2019) The GenomeAsia 100K Project enables genetic discoveries across Asia. Nature. DOI: https://doi.org/10.1038/s41586-019-1793-z

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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Insights into Asian Ancestry and Genetic Diversity - Technology Networks

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BETHESDA, Md., Dec. 4, 2019 /PRNewswire/ --The American College of Medical Genetics and Genomics (ACMG) heads to a new destination in sunny San Antonio, Texas in 2020. Named one of the fastest growing meetings in the USA by Trade Show Executive Magazine, the ACMG Annual Clinical Genetics Meeting continues to provide groundbreaking research and news about the latest advances in genetics, genomics and personalized medicine. To be held March 17-21, the 2020 ACMG Annual Meeting will feature more than 40 scientific sessions, 3 Short Courses, workshops, TED-Style talks and satellite symposia, and over 800 poster presentations on emerging areas of genetic and genomic medicine.

Interview those at the forefront in medical genetics and genomics, connect in person with new sources and get story ideas on the clinical practice of genetics and genomics in healthcare today and for the future. Learn how genetics and genomics research is being integrated and applied into medical practice.

Topics include gene editing, cancer genetics, molecular genomics, exome sequencing, pre- and perinatal genetics, biochemical/metabolic genetics, genetic counseling, health services and implementation, legal and ethical issues, therapeutics and more.

Credentialed media representatives on assignment are invited to attend and cover the ACMG Annual Meeting on a complimentary basis. Contact Kathy Moran, MBA at kmoran@acmg.net for the Press Registration Invitation Code, which will be needed to register at http://www.acmgmeeting.net.

Abstracts of presentations will be available online in January 2020. A few 2020 ACMG Annual Meeting highlights include:

Program Highlights:

Cutting Edge Scientific Concurrent Sessions:

Three half-day Genetics Short Courses on Monday, March 16 and Tuesday, March 17:

Photo/TV Opportunity: The ACMG Foundation for Genetic and Genomic Medicine will present bicycles to local children with rare genetic diseases at the Annual ACMG Foundation Day of Caring on Friday, March 20 from 10:30 AM 11:00 AM at the Henry B. Gonzlez Convention Center.

Social Media for the 2020 ACMG Annual Meeting: As the ACMG Annual Meeting approaches, journalists can stay up to date on new sessions and information by following the ACMG social media pages on Facebook,Twitter and Instagram and by usingthe hashtag #ACMGMtg20 for meeting-related tweets and posts.

Note be sure to book your hotel reservations early.

The ACMG Annual Meeting website has extensive information at http://www.acmgmeeting.net.

About the American College of Medical Genetics and Genomics (ACMG) and the ACMG Foundation for Genetic and Genomic Medicine (ACMGF)

Founded in 1991, the American College of Medical Genetics and Genomics (ACMG) is the only nationally recognized medical society dedicated to improving health through the clinical practice of medical genetics and genomics and the only medical specialty society in the US that represents the full spectrum of medical genetics disciplines in a single organization. The ACMG is the largest membership organization specifically for medical geneticists, providing education, resources and a voice for more than 2,300 clinical and laboratory geneticists, genetic counselors and other healthcare professionals, nearly 80% of whom are board certified in the medical genetics specialties. ACMG's mission is to improve health through the clinical and laboratory practice of medical genetics as well as through advocacy, education and clinical research, and to guide the safe and effective integration of genetics and genomics into all of medicine and healthcare, resulting in improved personal and public health. Four overarching strategies guide ACMG's work: 1) to reinforce and expand ACMG's position as the leader and prominent authority in the field of medical genetics and genomics, including clinical research, while educating the medical community on the significant role that genetics and genomics will continue to play in understanding, preventing, treating and curing disease; 2) to secure and expand the professional workforce for medical genetics and genomics; 3) to advocate for the specialty; and 4) to provide best-in-class education to members and nonmembers. Genetics in Medicine, published monthly, is the official ACMG peer-reviewed journal. ACMG's website (www.acmg.net) offers resources including policy statements, practice guidelines, educational programs and a 'Find a Genetic Service' tool. The educational and public health programs of the ACMG are dependent upon charitable gifts from corporations, foundations and individuals through the ACMG Foundation for Genetic and Genomic Medicine.

Kathy Moran, MBAkmoran@acmg.net

SOURCE American College of Medical Genetics and Genomics

http://www.acmg.net

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People in the UK will for the first time have their entire genetic code read from samples taken at a GP practice as part of a pioneering study to assess the potential benefits of screening for gene faults that increase the risk of disease.

Researchers aim to screen the genomes of around a thousand GP patients in London to assess the feasibility of testing for faulty genes that increase the risk of cancer and heart disease, and how acceptable screening is to patients.

The initiative, launched today (Friday), will aim to establish whether whole-genome sequencing in a healthy population can have a significant impact on peoples health by helping diagnose cancer, heart disease and other illnesses much earlier.

The new study is the first in the UK to assess whether whole-genome sequencing can be used to screen for a range of genes linked to disease or response to medicines, and what effect this has on patients healthcare. If successful, it could be a key step towards much more routine use of genetic testing to predict and manage patients future health in the NHS.

The research, called the 90S Study, is led by Professor Ros Eeles, a world-leading expert in cancer genetics at The Institute of Cancer Research, London, and The Royal Marsden NHS Foundation Trust, and Dr Michael Sandberg, a GP at 90 Sloane Street a private GP practice from which patient volunteers will be recruited.

The study involves further experts from The Institute of Cancer Research (ICR) and The Royal Marsden plus expert cardiologists at Royal Brompton Hospitaland is under the auspices of the 90 Sloane Street Genetic centre, a collaborative team of five consultant geneticists.

The first 20 patients will be evaluated for the psychological effects of genetic screening as part of a study funded by donations to The Institute of Cancer Research (ICR) and through support from the NIHR Biomedical Research Centre at The Royal Marsden and the ICR,and 90 Sloane St.

The study will then be expanded to around a thousand patients initially recruited at 90 Sloane St, with NHS GP practices lined up to join the pilot in a subsequent stage.

There has been huge progress over the last 25 years in identifying inherited causes of disease, such as BRCA gene faults predisposing to breast and ovarian cancer, and Lynch syndrome gene alterations which increase the risk of bowel and uterine cancer. In cardiovascular disease, familial hypercholesterolaemia causes inherited high cholesterol, variants in the long QT genes can cause dangerous heart rhythm disturbances and other gene faults can cause heart muscle disorders.

Advances in the technology to read peoples DNA have made it so much faster and cheaper that it is now practical to screen patients by sequencing their whole genome. There is considerable public interest in genetics, as shown by the growing popularity of unreliable and simplistic direct-to-consumer tests. But until now, there has been no thorough investigation of how properly controlled and validated genomic medicine could be integrated into primary care in the UK.

In the new initiative, researchers will analyse the entire genetic code of people attending a GP surgery and report on around 600 separate genetic changes known to be associated with disease, or in some cases affect how patients respond to or metabolise certain medicines. The study is looking only for actionable gene alterations which if detected would alter choices for an individual such as lifestyle improvements, specific screening and sometimes targeted treatments. It will not report on risk of diseases for which there are no current actions that can be taken.

The study will assess how frequently genetic alterations are picked up by whole-genome sequencing in people with a family history of cancer or heart disease compared with people who do not half of the volunteers will be from each group.

The researchers aim to expand the study to incorporate other partner GP practices and widen the possibility for people to take part. Evidence gathered will inform decision making around the use of whole-genome sequencing in a primary care setting in both the NHS and private practice.

The initiative differs fundamentally from direct-to-consumer testing in that patients will receive genetic screening as part of a detailed medical review. All patients will also have an on-site echocardiogram a heart ultrasound to provide crucial extra information and to reassure those with some genetic risk of heart disease but no signs that this is actually affecting their health.

The project leaders are not suggesting that future population genetic screening would necessarily need to be done with this level of resources and they will be looking for ways of simplifying and improving processes to be suitable for large-volume NHS screening.

Study leader Professor Ros Eeles, Professor of Oncogeneticsat The Institute of Cancer Research, London, and Consultant in Clinical Oncology and Oncogenetics at The Royal Marsden NHS Foundation Trust, said:

Weve seen incredible progress over the last quarter of a century in identifying genetic alterations that are linked to the risk of disease, opening up the possibility to intervene early to improve patients health.

Our new initiative takes cutting-edge science on the genetics of disease into a primary care setting, by sequencing patients entire genomes from samples taken at a GP surgery and testing for the presence of 600 key genetic alterations. What we hope is that genetic screening is practical as a way of picking up genes associated with cancer and heart disease, is psychologically acceptable to patients, and can alter the way they are managed by their GP.

The project will give us crucial information about whether genetic screening in primary care could be feasible, and how we should go about seeking to implement it within the NHS.

Dr Michael Sandberg, General Practitioner at 90 Sloane Street and Co-Principal Investigator for the 90S Study, said:

Genetic information will help us to target and identify high-risk patients, so as to find diseases at an earlier stage and give greater precision to screening and health optimisation in general practice.

Working in partnership with experts at The Institute of Cancer Research and The Royal Marsden means we can integrate whole-genome sequencing into screening in primary care with the genetic support that is essential. There is no doubt that primary care is the future setting for whole-genome screening which will be carried out by specially trained practice nurses supported by GPs and consultant geneticists.

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UK-first study to assess role of whole-genome screening in primary care - The Institute of Cancer Research

The new dairy proofs boast a revamped genetic index for cattle lifespan, enabling milk producers to identify bulls whose offspring will be more healthy and productive will help predict more accurate longevity in additional days rather than lactations.

Previously expressed in lactations which meant very little difference between the best and worst animals, the indexs scale has now been increased to approximately -305 to +305 days enabling producers to make more precise decisions.

Marco Winters, head of animal genetics with AHDB Dairy, said: The new figures give producers a more meaningful prediction of the extra lifetime expected from a bulls daughters and make a greater distinction between individual bulls.

Lifespan reflects many contributory factors, ranging from fertility and somatic cell counts to legs, feet and udder conformation. The index has a strong correlation with an animals average daily lifetime yield, which is a key contributor to its lifetime profitability.

Producers have made progress in their cows lifespan, which has steadily increased since LS was included in AHDBs Profitable Lifetime Index (PLI) in 1999 (see graph).

By helping to differentiate individual sires and moving to a larger and more meaningful scale, we feel confident we can further increase genetic progress for this trait, so cutting a herds replacement rate and its costs of heifer rearing, he said.

Lifespan Index Q and A

1. Why is lifespan so important?

It is estimated to cost more than 1800 to rear a Holstein dairy heifer from birth to the point of calving. Around 70% of farmers pay back this investment during the animals second lactation. More precisely, the average number of days at which payback occurs is a staggering 530 after first calving! Any measures which can therefore be taken to extend an animals productive life beyond this point will help improve its return on the large initial investment. Using the Lifespan Index when breeding cattle can help producers improve their herds survival rates by hundreds of days.

2. How does the new scale work?

The new scale for Lifespan Index (LS) will run from around -305 days to +305 days, with positive figures being desirable. Daughters of a +305 Lifespan Index bull are predicted to live, on average, 305 days longer than daughters of a sire whose index is zero. Equally, they are predicted to live 610 days longer than daughters of a -305 LS bull. As with all UK genetic indexes, zero represents the average.

3. How are Lifespan Indexes calculated?

The Lifespan Index is calculated from actual daughter survival, when that information is available. When it is not, it is either calculated from the animals own genotype (if it has a genomic index), or from predictive traits such as type traits (legs, feet and udders) and Somatic Cell Count Index, all of which are correlated with lifespan. Where necessary, information on ancestors lifespan will also be included in the calculation of the index. This and all other predictors will diminish in their importance as the animal acquires progeny lifespan information of its own.

4. Arent many animals culled for low production rather than survivability?

An important feature of the Lifespan Index is that it predicts involuntary rather than voluntary culling. As there is such a strong relationship between milk production and lifespan (because low producers are generally culled earlier from the herd), Lifespan Index is corrected for milk production. This correction ensures the index is more a measure of daughters ability to survive than of their failure to produce milk, which itself would be apparent from Predicted Transmitting Abilities (PTAs) for production.

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Revised genetic index will help boost longevity - The Scottish Farmer

Members of the Crop Wild Relatives project from the Crop Trust joined their research partners in Nepal on an expedition to collect wild relatives of rice, okra and eggplant in October 2017. Hannes Dempewolf of the Crop Trust says the elephants kept the researchers high enough off the ground that they didn't have to worry about any snakes that might be lurking. L.M. Salazar/Crop Trust hide caption

Members of the Crop Wild Relatives project from the Crop Trust joined their research partners in Nepal on an expedition to collect wild relatives of rice, okra and eggplant in October 2017. Hannes Dempewolf of the Crop Trust says the elephants kept the researchers high enough off the ground that they didn't have to worry about any snakes that might be lurking.

Call it a tale of science and derring-do. An international team of researchers has spent six years fanning across the globe, gathering thousands of samples of wild relatives of crops. Their goal: to preserve genetic diversity that could help key crops survive in the face of climate change. At times, the work put these scientists in some pretty extreme situations.

Just ask Hannes Dempewolf. Two years ago, the plant geneticist found himself in a rainforest in Nepal, at the foot of the Himalayas. He was riding on the back of an elephant to avoid snakes on the ground and to scare away any tigers that might be lurking about. Then all of a sudden came an attack from above.

"There were leeches dropping on us from all directions," Dempewolf recalls "bloodsucking leeches."

Now, this is far from where he thought he'd be when he got his Ph.D. But as a senior scientist and head of global initiatives at the Crop Trust, Dempewolf has been overseeing an ambitious international collaboration. More than 100 scientists in 25 countries have been venturing out to collect wild relatives of domesticated crops like lentils, potatoes, chickpeas and rice that people rely on around the world. The Crop Trust has just released a report detailing the results of this massive effort, which secured more than 4,600 seed samples of 371 wild relatives of key domesticated crops that the world relies on.

The "collecting teams are heading out into wild places and hard-to-reach corners within their countries to try to find and track down some of these wild species that have either never been collected before or are very underrepresented in seed banks," Dempewolf explains. So he says it's not surprising that many of the stories coming out of the project have an Indiana Jones-like sense of adventure to them.

Take, for example, an effort to collect Oryza glumaepatula, a wild rice species found in Latin America. Griselda Arrieta Espinoza, a crop genetics and biotechnology researcher at the University of Costa Rica, was part of a collecting team that set out to northern Costa Rica to collect a particular population of this wild rice that grows in a river. "Collecting it was quite the adventure," she tells me in Spanish because the river is also home to crocodiles.

While the effort was dangerous, Arrieta says it was also worth it, because Oryza glumaepatula is known to be resistant to a fungus that attacks domesticated rice grown around the world. And she notes that researchers in Brazil have already managed to cross Oryza glumaepatula with domesticated rice to improve crop yields.

Jamal Mabrouki, a technician with the International Center for Agricultural Research in the Dry Areas, works on a grasspea breeding project at ICARDA's facilities at Marchouch station, Morocco. Michael Major/Crop Trust hide caption

Jamal Mabrouki, a technician with the International Center for Agricultural Research in the Dry Areas, works on a grasspea breeding project at ICARDA's facilities at Marchouch station, Morocco.

The overall goal of the Crop Trust project is to make sure that this kind of valuable genetic diversity is preserved in seed banks before wild crop relatives disappear as urban development encroaches on once wild habitats. Dempewolf says that this is already happening.

"Some of the populations that the [research teams] were hoping to collect, when they reached the areas where they had seen populations before, they had disappeared," Dempewolf says.

Steven Tanksley, a professor emeritus of plant breeding at Cornell University, who was not involved in the Crop Trust project, praised the effort. He notes that the domesticated crops we eat today were selected from wild plants over thousands of years. He says this "natural reservoir of diversity ... has allowed plant breeding to attempt to keep pace with the demands of the growing human population."

That diversity took shape over millions of years, molded by natural selection, so "when you lose it, you really can't repeat that process," says Tanksley, who is also chief technology officer for Nature Source Improved Plants, which focuses on the genetic improvement of plants.

In the past, he notes, breeders have used wild crop relatives to improve disease resistance in many domesticated crops, including tomatoes, potatoes, rice and wheat.

A growing global population and changing environmental conditions because of climate change present urgent new challenges for crop breeders, Tanksley says.

"If we're going to have a sustainable world with a sustainable environment, we have to produce a lot more food per hectare than we ever have in the past," he says, adding, "I think people don't really grasp that the urgency of it."

And without the genetic diversity of wild crop relatives, he says, the world will have little chance of keeping up with growing demand for food.

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Raiders Of The Lost Crops: Scientists Race Against Time To Save Genetic Diversity - NPR