Genetics

Dr. Brian McDonough speaks with Dr. Philip E. Empey, PharmD, PhD, Assistant Professor of Pharmacy and Therapeutics at the University of Pittsburg School of Pharmacy. Their discussion centers on advancements in genetic testing to detect variances in response to anticoagulation therapies for patients undergoing vascular procedures such as stent placements.

In the ongoing global campaign to prevent, treat, and cure HIV and AIDS, there have been countless therapeutic approaches targeting the HIV virus and everything it interacts with on the path to infection. But after decades of relentless infectivity claiming over 25 million lives, what if we could one day simply edit and delete the HIV virus right out of existence?

Joining Dr. Matt Birnholz to discuss a novel research effort to leverage gene editing technology in the fight against HIV is Dr. Kamel Khalili, Professor and Chair of the Department of Neuroscience, Director of the Center for Neuro-virology, and Director of the Comprehensive Neuro-AIDS Center at the Lewis Katz School of Medicine at Temple University.

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Rates of genetic testing for BRCA1 and BRCA2 mutations have increased among younger women diagnosed with breast cancer, according to a new study. The study focused on nearly 900 women diagnosed with breast cancer at age 40 or younger. Researchers looked at rates of genetic testing, barriers to testing, and how the test results affected treatment decisions.

In 2006, the rates of BRCA testing were in the seventy percent range and by 2012 that proportion rose to ninety-five percent. While the majority of women reported being tested for BRCA 1 and 2, many were not, and a small minority reported that no one had discussed genetic risk or testing options. The study authors note that the overall goal of genetic testing is to help women make informed treatment decisions. Assessment of a young woman's genetic risk after a breast cancer diagnosis can affect treatment decisions and the results can also have health implications for her relatives.

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Autism Spectrum Disorder (ASD) represents a diverse group of neurodevelopmental conditions. If researchers can better understand the genetics of ASD, it may be possible to identify and diagnose at-risk children sooner. A new study looked at the results of two newer genetic testing technologies, chromosomal microarray and whole-exome sequencing, in children diagnosed with ASD.

Researchers from Newfoundland, Canada studied more than 250 children diagnosed with ASD. All participants underwent the chromosomal microarray analysis, however, only 95 randomly selected participants had whole-exome sequencing. Results found that sixteen percent of the children had an ASD related genetic finding on either microarray or whole-exome sequencing.

In addition to the new tests, researchers also closely examined the children for subtle physical differences and screened them for birth defects. Based on these exams, they were put into three groups of increasing physical severity: essential, equivocal, and complex. Researchers found that thirty-five percent of children in the complex group had a positive genetic test. In that group, the diagnosis of autism was more delayed than in the children of the other groups.

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This week, Mark and Margaret speak with Dr. Eric Green, Director of the National Human Genome Research Institute at the National Institutes of Health, the world's largest organization dedicated solely to genomics research. Dr. Green was on the team that mapped the human genome and talks about new initiatives at NIH to create better platforms for storing and sharing big data in this new era of scientific research.

This week, Mark and Margaret speak with Dr Kenneth Brigham, cofounder and past director of the Emory/Georgia Tech Predictive Health Institute, on the future of predictive health. They discuss the use of genomics, biometrics, and nanotechnology to identify disease risks early in life and perhaps prevent the future onset of disease.

Incorporating family histories and genetic health information into primary care has been a long term vision for many experts in the medical genetics field. When will this vision become a reality, and what will it take to enable widespread adoption of these tools in general practioners' offices nationwide? Host Dr. Robert Green welcomes Dr. Howard Levy, primary care physician, geneticist, and assistant professor of Medicine at the Johns Hopkins School of Medicine. Dr. Levy's research interests center on the integration of genetics into primary care, education of non-geneticist providers about genetics, and the natural history and management of Ehlers Danlos syndrome and related disorders of connective tissue.

Genomic Medicine is making a rapid entry into the healthcare landscape, but questions on the potential vs realized impacts toward clinical care outcomes persist. Which genomic information will be crucial to patient care? Addressing this and other questions with host Dr. Howard Levy is Dr. Robert Green, Director of the Genes-2-People (G2P) Research Program in Translational Genomics and Health Outcomes at Brigham and Women's Hospital and Harvard Medical School.

From the ASHG Meeting in San Diego, Dr. Howard Levy is joined by Dr. David Ledbetter, Executive Vice President and Chief Scientific Officer at Geisinger Health System. Dr. Ledbetter shares his career story as an internationally recognized researcher in the advancement of medical genomics, and the initiatives he is leading at Geisinger to bring genomic sequencing to primary care settings for improved risk assessments and better patient outcomes.

The advances of genetic and genomic medicine within clinical practice enable more precisioned, predictive care decisions. But with these new capabilities and access points to patient information come new ethical challenges. Understanding which information will be clinically valuable, how and where that information should be stored, who can access it and why are just starting points for ethical consideration. Joining Dr. Howard Levy to explore this important topic in greater depth is Dr. Wylie Burke, Professor of Bioethics and Humanities at the University of Washington. Dr. Burke is also Principal Investigator of the University of Washington Center for Genomics and Healthcare Equality, an NIH-funded Center of Excellence in Ethical, Legal, and Social Implications (ELSI) Research, and dual Principal Investigator of the Northwest-Alaska Pharmacogenomic Research Network. Her research addresses the social, ethical and policy implications of genetic information.