We've heard a lot about the genomics revolution recently, including its benefits (Angelina Jolie) and dangers (uncertain accuracy). As a genetic counselor, I have seen these changes firsthand. When I finished college in 1993, genetic tests existed for 100 diseases; this number had quadrupled by the time I finished graduate school three years later. During my first job, I researched testing options by faxing off a form the day before a patient's appointment, hoping that a list from the service would be faxed back before their arrival. Today, I simply type in a search term, and genetic testing options for more than 2,000 diseases instantly appear on my screen. Advanced technology now makes it possible to screen for dozens of medical conditions in one saliva test with greater accuracy than has ever existed before.
Clearly, the genomics revolution is here. Unfortunately, though, the very people we hope to benefit may be left behind. I've experienced this myself when trying to coordinate testing for my patients' relatives through their personal doctors. A 2013 study by Selkirk et al. showed that as high as 70 percent of physicians reported "no to minimal knowledge" of genomics. With the lightning-fast pace of this revolution, this is an understandable if unfortunate gap, and it leads to discomfort with genetic testing. I distinctly remember one woman from rural Georgia who was never able to have the testing she needed after her infant was identified as a carrier of cystic fibrosis (carrier screening identifies genes that you carry that have little effect on your health, but can cause very serious diseases in a carrier's children). With one child testing as a carrier, she was simply trying to ensure any future children wouldn't actually have the disease. Her frustration was palpable.
I believe, though, that with creativity and perseverance, it is possible for the genomics revolution to provide potentially lifesaving services to individuals while still adhering to guidelines that ensure the wellbeing and peace of mind of the people we serve. We're attempting that with JScreen, a not-for-profit public health program started at Emory University in Atlanta. JScreen participants request a saliva kit through our website, which is rich in information on the test, the diseases screened for and other resources. JScreen's team of experts reviews the patients' securely entered information and works with their healthcare providers to order the appropriate screening test and counseling. After the at-home saliva test is processed by an independent lab, licensed genetic counselors address the results with both the patient and their healthcare provider to help give the best chances for a healthy pregnancy and healthy baby. This is perhaps one of the most important facets of the JScreen model. Because these tests deliver complex information that can sometimes have implications on peoples' life plans, a person deserves to have their questions answered by trained professionals.
JScreen launched on Sept. 3 of this year and is currently focused on screening for 19 hereditary diseases that are more common in the Jewish population, although people without Jewish ancestry are more than welcome to contact us as our extended panel tests for 80+ different hereditary diseases. It is too soon to know if this collaborative approach will be effective. The early signs are good, though. Feedback from participants and their physicians has been very positive. Approximately 85 percent of people are requesting a kit prior to pregnancy, when the most options for prevention exist. As with any new healthcare model, I have no doubt that there will be difficult issues to work through over the coming years. Every time I think of the woman from rural Georgia, though, my commitment to finding solutions is renewed. She deserves to benefit from the genomics revolution too. We all do.