Genetics

After many years of collaborative research spanning the globe, the genetic mechanisms of uterine fibroid development have become well understood. What are the clinical ramifications of this knowledge, and how can genetic testing further guide treatment decisions? Speaking with Dr. Howard Levy on the genetics of uterine fibroids is Dr. Cynthia Morthon, Past President of the American Society of Human Genetics, and Professor of OB/GYN and Pathology at the Brigham and Women's Hospital and Harvard Medical School.

When patients and clinicians alike consider genome sequencing, an attitude of "more is better" often predominates notions of what information to obtain. But new perspectives on the comparative value and contained costs of more refined exome sequencing have since emerged. Joining host Dr. Robert Green to discuss the benefits and drawbacks of respective clinical sequencing options is Dr. Richard Gibbs, Wofford Cain Chair and Professor of Molecular and Human Genetics, as well as Founder and Director of the Human Genome Sequencing Center at Baylor College of Medicine.

Dr. Howard Levy welcomes Joseph McInerney, Executive Vice President of the American Society of Human Genetics, to talk about collaborative efforts within the Society to help healthcare professionals integrate genetics into clinical care for their patients and promote medical education for the wider public.

This week, hosts Mark Masselli and Margaret Flinter speak with cardiologist, genomics and telemedicine expert Dr. Eric Topol, Director of the Scripps Translational Science Institute. They discuss his latest book, The Patient Will See You Now: The Future of Medicine Is In Your Hands, in which he predicts the "medicalization of the smart phone" is poised to truly democratize medicine by putting the power of diagnostics and monitoring in the patient's own hands.

DNA testing can bring with it a level of risk that may be surprising to some; testing can bring about unexpected findings - either ucovering latent medical diseases and disorders or uncovering surprising family findings. Guest Dr. Doug Moeller speaks with Dr. Brian McDonough to discuss how the medical community can help prepare individuals for some of these findings. Dr. Moeller is the Medical Director at McKesson Health Solutions and is an expert on clinical coding with a growing focus on advanced diagnostics and episode of care management.

The Society for Maternal Fetal Medicine (SMFM) has long been dedicated to the optimization of pregnancy and perinatal outcomes; but according to Dr. Vincenzo Berghella, President of SMFM and Professor of OB/GYN at Thomas Jefferson University School of Medicine, this mission is continually challenged by ongoing issues such as maternal morbidity and mortality, preterm birth, lack of updated practice guidelines, and OB/GYN burnout. Dr. Berghella speaks with host Dr. Matt Birnholz about SMFM's response to these and other issues, and includes his recently published 6 keys to physician happiness on behalf of practicing OB/GYNs everywhere.

"We are what our parents and grandparents ate, and how they lived," says Dr. Mark Hanson, Director of the Academic Unit of Human Development and Health at the University of Southhampton in the United Kingdom. This chilling but increasingly recognized prospect concerning intergenerational passsages of disease risk helped found the Developmental Origins of Health and Disease (DOHaD) study, a worldwide collaboration aimed at better understanding environmental to genetic determinants of health across multiple generations. In this discussion with host Dr. Matt Birnholz, Dr. Hanson highlights the science behind broadening our scope of individualized care to include both past and future generations of each patient.

The Philadelphia Chromosome provided the first evidence that genetic abnormalities were linked to cancer. This discovery at Penn Medicine more than 50 years ago ushered in the modern period of cytogenetics. Now, the Center for Personalized Diagnostics (CPD) builds on this legacy and is set to pave the way for a new era of genomic and therapeutic pathology. The Center is a joint initiative with the Abramson Cancer Center and integrates molecular genetics, pathology informatics and genomic pathology to empower physicians and patients to truly customize their treatment options accordingly. Host Dr. Lee Freedman welcomes Dr. David Roth, Chair of the Department of Pathology and Laboratory Medicine and Simon Flexner Professor of Pathology and Laboratory Medicine at Penn Medicine to discuss the unique Center and offerings for patients.

This Presidential Plenary Scientific Session of the American College of Medical Genetics and Genomics (ACMG) is titled "The Coming Revolution in Medical Genetics: From Double Helix to Genomics and Back Again." Speaking is Dr. Wayne W. Grody, President of the ACMG and Professor in the Departments of Pathology & Laboratory Medicine, Pediatrics, and Human Genetics at the UCLA School of Medicine.

Who should be tested for genetically elevated cholesterol, or familial hypercholesterolemia? And how do we decide when and how to treat? Host Dr. Alan Brown talks with Dr. Jennifer G. Robinson, director of the Lipid Research Clinic and co-director of the Prevention Intervention Center at the University of Iowa. They discuss who is at risk in families, what age to start testing children, as well as treatment guidelines for children, adolescents, adult men, and women before and after childbearing age. For example, how do we treat children who test positive for familial hypercholesterolemia as young as two years of age?