Suspect a Rare Disease? Genetic Testing Might Be the Best Course of Action

Suspect a Rare Disease? Genetic Testing Might Be the Best Course of Action

Genetic testing is now more available than ever before. For those who suspect a genetic disorder, the best route is often through a genetic counselor. They can advise you not only about what tests are most likely to reveal the cause of a condition, but also which genetic testing laboratory is best and most economical.

And most importantly, genetic counselors can help understand the meaning of the test results. As the tests available have multiplied and genetic tests have become ever more nuanced, genetic counselors have also become specialized. Some work primarily in the genetics of hereditary cancer syndromes and risks. Others work in the area of prenatal genetics, looking at carrier status of prospective parents, and  pre-implantation genetic testing for  those undergoing IVF. Some genetic counselors specialize in metabolic disorders, neurological  areas, adult complex problems or pediatric disorders.

Genetic counselors are in short supply and families often have to travel long distances to meet with one. Telehealth appointments are becoming more available and help provide access..

The National Society of Genetic Counselors has an online tool to “find a genetic counselor” either in person or through telehealth, and the site also helps guide one by the reimbursement setting. For instance, if you are a veteran, it is helpful if your counselor is familiar with the process and procedures for accessing genetic testing through the VA.

The link is: https://findageneticcounselor.nsgc.org/In-Person-FindaGC

In addition, more genetic counselors are now in private practice, and many of these practices can be accessed without a referral — https://gcclinicfinder.com