The project, funded by a $2 million appropriation from the Alabama Legislature to UAB, supports one of the nations first statewide efforts to harness the power of genomic analysis to help identify those at high risk for a genetic disease, and provide a basis for continuing research into genetic contributors to health and disease.

This initiative could be transformative for the state of Alabama, said Selwyn M. Vickers, M.D., UABs senior vice president for medicine and dean of the UAB School of Medicine. We will use the knowledge gained from the AGHI to begin to uncover more undiagnosed diseases, and will potentially rewrite our understanding of the burden of disease on our population. This project can have tremendous impact on the residents of Alabama and stimulate economic development in the state.

The AGHI will recruit a diverse group of participants from every county in Alabama and provide genomic analysis and interpretation to this group free of charge. For some, the results will indicate an increased risk of a disease for which preventive or treatment strategies exist. Those participants will receive genetic counseling and be linked to appropriate medical care. The initiative will also feature a public education campaign about genomic medicine and create a DNA biobank for research.

Immediate benefits for some

In the first year, the initiative plans to recruit 2,000 individuals who will each provide a DNA sample from a simple blood draw. Over a five-year period, the goal will be to increase the database to include genetic information from more than 10,000 people.

Since the Human Genome Project was completed in 2003, weve learned a tremendous amount about the roles of genes in disease, said Bruce R. Korf, M.D., Ph.D., chair of the UAB Department of Genetics and co-director of the AGHI. This project will result in immediate health benefits to some participants, and in the long term will help to address problems of chronic disease and rising health care costs in the state. It will also position Alabama as a leader at the forefront of 21st-century medicine.

The AGHI will engage citizens throughout the state and their health providers in the use of genomic information to guide medical care.

This initiative advances the tremendous work already being done in genomics at HudsonAlpha and at UAB, said Richard M. Myers, Ph.D., president and science director of HudsonAlpha Institute for Biotechnology. Genomics is dependent on several factors, data being one of them. Undoubtedly, individuals will benefit from the AGHI; additionally, the initiative could lead to identification of new genetic diseases and new treatments for those conditions that will benefit Alabamians and the rest of the world. Through the AGHI, we can help make our citizens healthier, and demonstrate the value and power of genomic medicine in creating a new paradigm for health care. HudsonAlpha is proud to partner with UAB for this groundbreaking initiative.

Korf anticipates that those who choose to participate will fall into one of two major categories. Most will be generally healthy, or will be receiving medical care for one or more conditions not recognized to have a genetic cause. The other group will be those with a recognized genetic issue, the origin of which is undetermined. Both groups will provide blood samples that will undergo genomic analysis at HudsonAlpha in Huntsville.

59 genes

The blood samples from the larger group those not known to be affected by a genetic condition will undergo a genotyping array test, assessing some 650,000 identified genomic biomarkers. The genotyping test will look for the presence of variants in 59 specific genes, referred to as actionable genes by the American College of Medical Genetics and Genomics. An ACMG committee, of which Korf is a member, compiled the list in 2013 after an exhaustive search of medical literature. The 59 genes are those that are known to contribute to disease and for which the potential for prevention or treatment exists.

Perhaps the best-known genes on the list of 59 are BRCA1 and BRCA2, which are associated with a genetic risk of breast and ovarian cancer, Korf said. Other genes on the list are known to contribute to the risk of other types of cancers, as well as some cardiac diseases and other conditions.

Participants who test positive for one of the 59 genes on the ACMG list will, along with their primary medical provider, receive that information coupled with genetic counseling to provide interpretation of the results. Referral to appropriate prevention strategies or treatment will be provided through the primary care physician or a specialized provider.

Individuals receiving a report that they have one of the 59 actionable genes will, with help from medical professionals, be able to develop a treatment plan going forward, Myers said. Potential interventions include increased surveillance, surgery or medications to reduce the risk.

Korf estimates 1 to 3 percent of those who undergo testing will show a positive result for one of the 59 actionable genes. The list is continuously being reviewed, and it is likely that, as it evolves, those changes will be incorporated into the AGHI. In addition, a committee within AGHI may decide to add genes to the list for return of results to AGHI participants based on medical priorities important in Alabama.

The number of individuals likely to get a positive report will be small; but the results will be life-changing, possibly lifesaving, for those persons, Korf said. And there is a multiplying effect. If one person discovers they have a genetic risk for a disease of which they were unaware, that potential risk can then be relayed to others in the family, so that they may also take appropriate action.

Participants with a genetic condition of undetermined origin will receive a more extensive evaluation, known as whole genome sequencing, conducted at HudsonAlpha. Analysis and interpretation of those results will also be communicated to the patient/parents and his or her primary medical provider, and participants will be linked to appropriate medical care, potentially including the UAB Undiagnosed Diseases Program or the Smith Family Clinic for Genomic Medicine on the HudsonAlpha campus.

Both HudsonAlpha and UAB have extensive genomics experience in both the research and clinical arenas, said Greg Cooper, Ph.D., faculty investigator at HudsonAlpha and co-leader of the sequencing workgroup for the AGHI. What we know already about the human genome will immediately benefit participants, and what we learn throughout the duration of the initiative will help transform the landscape, not only for participants, but for their families in the short term and all of society long term.

Spring recruiting

Subjects will be recruited beginning this spring at UAB, followed by recruitment efforts at Cooper Green in Birmingham, as well as at UAB clinical operations in Huntsville, Montgomery and Selma, and eventually other sites in Alabama. The blood samples and extracted DNA collected from all participants will be retained in a biobank for future research purposes.

Our goal is to develop a representative cross sample of Alabama residents, broadly representative of ethnic, racial and socioeconomic groups throughout the state, said Matthew Might, Ph.D., director of the UAB Hugh Kaul Personalized Medicine Institute and co-director of the AGHI.

Might, newly recruited to UAB, was appointed by former President Barack Obama to serve as a strategic adviser to the White House Precision Medicine Initiative in 2015. He has a personal interest in the power of genomic medicine, as his son was diagnosed in 2012 as the first case of NGLY1 deficiency, an ultra-rare genetic disorder. Might said the combined resources of the UAB-HudsonAlpha Center for Genomic Medicine, UAB Informatics Institute and the Personalized Medicine Institute will drive groundbreaking research based on the genomic information garnered by the AGHI.

Such a database will be an unparalleled tool for understanding the health risks across different demographics in the state, Might said. It will give researchers working on finding cures to conditions ranging from diabetes to heart disease to epilepsy the knowledge to identify genetic factors that predispose individuals to rare or common disorders, with the hope of developing new approaches to prevention, diagnosis and treatment.

Ethical, legal and social issues will also be addressed by the AGHI, which has formed a bioethics working group to ensure the initiative conforms to the highest ethical principles. Bioethicists, two from HudsonAlpha, one from Tuskegee University and one from UAB, will review all plans and procedures to ensure that appropriate safeguards and protections are in place and guide the initiative on matters such as privacy, security and informed consent. The AGHI will establish an ethics review panel to investigate and respond to potential issues.

The team

The AGHI will have a steering committee to provide oversight on procedures and policies. Edward Partridge, M.D., the director of the UAB Comprehensive Cancer Center, will lead that committee along with Rick Myers, Ph.D., president and science director at HudsonAlpha, and three leaders in the UAB School of Medicine: Etty Benveniste, Ph.D., senior associate dean for Research Administration andDevelopment; Robert Kimberly, M.D., senior associate dean for Clinical and Translational Research; and Toni Leeth, MPH, associate dean for Strategic Planning and Administration.

Greg Barsh, M.D., Ph.D., HudsonAlpha faculty investigator and faculty chair, isa co-director along with Korf and Might.

The AGHI consists of four working groups. The genomics working group is led by Greg Cooper, Ph.D., a faculty investigator at HudsonAlpha, and Anna Hurst, M.D., assistant professor, UAB Department of Genetics. The recruitment working group is led by Mona Fouad, M.D., UAB senior associate dean for Diversity and Inclusion; and William Curry, M.D., UAB associate dean for Rural Health and Primary Care.

The bioethics working group is led by Mariko Nakano, Ph.D., assistant professor, UAB Department of Medical Education; Kim Strong, Ph.D., faculty investigator and director of the ethics and genomics program, HudsonAlpha; Tom May, Ph.D., research faculty investigator, HudsonAlpha; and Stephen Sodeke, Ph.D., bioethicist and professor of allied health, National Center for Bioethics in Research and Healthcare, Tuskegee University. The data and bio banking working group is headed by Jim Cimino, M.D., director of the UAB Informatics Institute; and Jeff Edberg, Ph.D., professor in the UAB Division of Clinical Immunology and Rheumatology.

This story originally appeared on the UAB News website.

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UAB launching statewide genetics initiative to improve health for Alabama residents - Alabama NewsCenter

As Congress continues its debate over the Republican replacement plan for the Affordable Care Act, one bill sponsored by North Carolina Congresswoman Virginia Foxx (R-NC5) is being resoundingly rejected by her hometown newspaper.

Heres how the editorial board of the Winston-Salem Journal explains the Preserving Employee Wellness Programs Act (HR 1313) that was introduced by the 5th District Congresswoman earlier this month:

The Preserving Employee Wellness Programs Act, HR 1313, would allow employers to impose big financial penalties on employees who decline to provide information on their genetics through workplace wellness programs. Employers, in general, dont have that power under existing federal laws that protect genetic privacy and nondiscrimination. But a bill passed Wednesday by a House committee would allow employers to get around that if the information is collected as part of workplace wellness programs, The Washington Post reported last week.

Bill supporters say it gives employers the legal certainty to promote good health and lower health-care costs. They say that, as it is now, federal regulations make it difficult to offer these programs.

This bill, which would be big government run amok, is not the solution. It would allow employers to reward those who share their genetic info with deep cuts to their health-insurance costs, leaving those who dont submit paying substantially more.

So employees would feel pressured to provide their existing genetic information, and possibly submit to genetic testing, or pay the price. That is neither right nor fair. Opponents, including writers to our letters page, are rightly raising heck over this bill that one House committee has already approved.

Read the full editorial from the Journal here.

Learn more about HR 1313 in The New York Times.

Continued here:
Editorial: Time for Congress to kill Virginia Foxx's 'wrongheaded' genetics bill - The Progressive Pulse

In an industry dominated by large corporations, local seed company Seitec Genetics has found a way to stand out.

The company, started in 2007, has used several innovative techniques to offer a wide variety of quality corn and soybean seed to farmers in Nebraska and eight other states.

In recognition of the local companys innovation within the industry the Fremont Area Chamber of Commerce has named Seitec as Innovator of the Year.

Obviously we dont do what we do every day thinking about awards or anything like that but it is sure nice to be recognized and know that people are noticing the hard work and what we have been able to accomplish, President Dennis Bracht said.

The company will be honored at the Excellence in Agriculture Awards Luncheon on Tuesday at Fremont Golf Club. The event is scheduled from 11:30 a.m. to 1 p.m.

We have a couple things that we do differently than most seed companies; we pay special attention to quality and actually have higher testing standards than other companies in the industry, Bracht said.

One innovation was implementing the LEAP testing program, which stands for Local Environment Advancement Plots, and allows the company to determine how a variety of seeds will perform in a specific of environment.

We test a broad array of genetics across a lot of different environments and pay special attention to moving forward with products that have local area advancement, Bracht said.

Basically, Seitec is able to plant a variety of seeds with different traits, such as herbicide tolerance and insect resistance, on a variety of plot fields to determine which seed will grow best in that specific environment.

The company uses that data to see which seeds produced the highest yields in a specific environment, and then sells the highest producing seeds to farmers whose fields closely match the test plots.

Our unique process of evaluating products by environment leads to hybrids and varieties that are more highly adapted, more reliable, and higher yielding than traditional product selection, Bracht said.

With help from a specially designed planter, Seitec is able to plant 66 varieties of seed on a single test plot to determine which variety will grow best in that specific environment.

When we are testing we have 60 locations that we are hauling our planter and tractor around to, and that gives us an idea of which traits and genetics will work best over a variety of field conditions, Bracht said.

Along with using testing methods that go beyond industry standards, the independent company can offer a wider variety of seed traits and genetics than most seed dealers.

Some of these other brands they have parent companies like a Monsanto or Syngenta and they have certain traits that they spent a lot of money to develop. We are able to license from all of those companies and really be able to test them all head to head and what it really does is open up the genetics, Bracht said.

Many seed brands are confined to the traits their parent company offers which in turn limits the genetics to which they have access.

Unlike most seed dealers in the area, Seitec has been able to keep most of their operation local, or at least confined within the state. The company conditions their seeds at Blair Seed Services and grows most of their seed in Nebraska.

Blair Seed Services is one of the most modern and seed safe plants in the nation and we grow most of our seed under irrigation right here in Nebraska, Bracht said.

Most of Seitecs seed is grown in areas surrounding North Bend, Geneva and Wood River.

According to Brasch, the Fremont area has provided an ideal place for the business to grow and flourish.

We are a nice sized town and we are right on the edge of where all the actual agriculture is happening so we can remain connected to farmers and still be able to draw resources from surrounding cities, he said.

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Seitec Genetics honored as innovative business - Fremont Tribune

HERSHEY, Pa. What if your familys DNA could become the blueprint for your very own precise and personalized treatment for colorectal cancer? Or, better yet, what if it could be used to help doctors screen you earlier for the disease, before it has a chance to strike?

This isnt a science-fictional, futuristic ideal. Cutting-edge research at Penn State College of Medicine and the Penn State Colorectal Diseases Biobank is revealing how genetics play a role in treating this disease.

The team at the biobank takes things one step further, too: They empower patients. Combating illness is as much a psychological battle as it is a physical one, says Dr. Walter Koltun, chief of the Division of Colon and Rectal Surgery and director of the biobank. By filling patients with knowledge about genetic causes of disease and the subsequent care for their life-threatening conditions, they can take an active role in their own treatment.

For patients, the stress is the unknown and the lack of control. If you incorporate their concerns and their responses, they become more compliant with treatments. They understand the rationale for what were doing, Koltun says. I call that, patient-centered care. It really means the patient is the director of the symphony. What they need and how their disease affects them, comes back to genetics what disease they have and how it is interacting with their bodys physiology is different for each patient and is in large part related to their genetics.

Colorectal cancer is the third most-common life threatening cancer in the United States, according to the American Cancer Society. During 2017, it is expected to cause 50,260 deaths in the nation. If everyone age 50 and older were screened, six out of 10 deaths could be prevented, says the U.S. Department of Health and Human Services.

But genetics research at the Colorectal Diseases Biobank is advancing the battle for prevention and treatment.

Learn more about the Biobank in this Penn State Medicine article.

Last Updated March 15, 2017

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Penn State Colorectal Diseases Biobank links genetics and colorectal cancer - Penn State News