Here at the Program for Jewish Genetic Health, we do not have a formal “genetics hotline”, but we get more than our fair share of phone calls with people asking for direction or advice related to genetics and genetic testing issues in their families. We get to hear from people from all over the world and are often surprised and intrigued at how many new and interesting questions come up, including questions related to shidduchim (matchmaking and dating), genetic testing and halacha (Jewish law), and referrals to genetics specialists. While we try our best to provide a sympathetic ear and help as best we can, sometimes my compassion gets stretched to the limit. Since I believe so strongly in the utility of genetic counseling, I find it hard to keep my cool when the caller tries to convince me that they know better or that they can navigate the genetics scene by themselves (because, really, if he/she could, why would they be calling me for help?).
Here is one representative example of a call we have fielded:
Caller: “My child had this genetic testing done, and now we’re trying to figure out how to test ourselves and what the next steps are.”
Ok. Sounds reasonable.
Me: “Who did the genetic testing for your child?”
Caller: “Our pediatrician.”
Not ideal, but it was ordered by a physician. Let’s get a bit more information so I can figure out the next best steps.
Me: “Are you going to meet with a genetic counselor or geneticist?”
Caller: “No, we haven’t gotten that far yet.”
Me: “How did your pediatrician decide to order that test?”
Caller: “We asked him to write the prescription, so he did, and we brought it to the lab and had the test done.”
Me: “How did you guys come up with the idea to do that genetic test?”
Caller: “Well, my child has XYZ issue and we’ve been looking into nutritional therapies, and this specific test was recommended by a member of a wellness nutrition group on Facebook..”
…….. ………… !?!?!?!?!?!?!?!?!?!?
Especially with all the hype out there about genetics and the future of medicine, it is totally understandable for parents to turn to genetics and genetic testing to try and better understand medical issues in their families and figure out more effective treatments. And in many areas of genetics, we are actually very good at doing just that! However, the DIY approach may not be the best approach, especially when the genetic testing needed is more complex and may require testing multiple genes.
Trained genetic counselors and geneticists are here for a reason! We are your friends! We are your guides to the big wide world of genetics and genetic testing. Genetic counselors are actually trained to look at your personal medical and family history and determine which genetic tests are most appropriate, coordinate testing, work through insurance coverage issues, and then explain the results when they come back. That is our WHOLE job (ok, fine, genetic counselors often do much more than this). PLEASE USE US AS A RESOURCE! (We are here to help healthcare providers and patients alike!)
In the end, I just felt bad for this family. The parents were clearly trying to figure out the best way to care for their child- but they were trying to do it alone, without the guidance of trained genetics professionals who could have helped guide them to the right tests, and spared them some anxiety and worry in the process.
As genetics becomes further integrated into medical care, the need for access to trained professionals who can help interpret and incorporate genetic testing and genetic testing results into care continues to increase. There are more than 4,000 certified genetic counselors in the U.S., and our numbers and impact continue to grow! Genetic counselors are your best resource to navigate the genetic testing maze which currently exists for the public, but we can only help if you involve us in the process.
You can find a local genetic counselor by visiting www.NSGC.org and using the “Find a Genetic Counselor” tool.