Sorry it has been awhile since my last update but I have been traveling a bit on behalf of NSGC in addition to my day job at Ambry Genetics. I promise to provide more frequent communications throughout the rest of the year. As many of you know, the National Society of Genetic Counselors is one of the thought leaders in genetic counseling and the emerging field of genetic medicine. It is in this vane that we are constantly being asked to provide our input at the table when these important discussions take place.
In late August, I attended a meeting in Atlanta where I served as a member of the National Task Force for the Early Identification of Childhood Neuromuscular Disorders. This task force was cosponsored by Parent Project MD and the CDC and the major goal of the group is to decrease the time to appropriate referral and diagnosis for children with neuromuscular disorders. This is an ongoing project with 2 more years of funding. A website and further plans are currently in development. NSGC was the only genetics provider organization that served on this task force.
In September, I attended a National Institutes of Health (NIH) meeting, “Examining the Scientific Basis for Spinal Muscular Atrophy Carrier Screening”. The meeting which is cosponsored by The National Human Genome Research Institute, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, and the National Institute of Neurological Disorders and Stroke will inform the research agenda for the field, and provide a venue for discussion among researchers, voluntary organizations, professional societies, and NIH staff. The meeting agenda included presentations on the state of the science and on policy issues, along with discussion opportunities. Attendees included representatives of genetics societies, ACOG, and many advocacy groups related to neuromuscular disorders that include SMA. Follow up conversations and next steps are in progress.
This month I had the opportunity to speak at the International Society of Nurses in Genetics (ISONG) annual meeting in San Diego. The topic covered the latest developments of the NSGC and focused on collaborations. In addition, we have been working more with ISONG and our 2010 annual meetings will be back to back in Dallas. We are looking forward to having some great learning opportunities for both our organizations members. In addition, the talk I had an opportunity to moderate a panel of patients with genetic conditions and how they deal with the challenges these conditions present. Following the ISONG meeting I had one whole day at home before heading off the American Society of Human Genetics (ASHG) meeting in Honolulu (not as glamorous as it sounds). I was invited by Bruce Korf, MD the current president of the American College of Medical Genetics (ACMG) to present an update from NSGC to their board of directors. I also had the opportunity to meet several staff members of the ACMG. We are hopeful the continued increase in communication between our two organizations will be mutually beneficial.
The presence of NSGC at meetings like those described above will continue to reinforce our vision and our mission.
Steven Keiles, MS, CGC