Navigating Genetic Testing in 2024: Guidance for Providers and their Patients

Advancements in genetics continue to captivate the attention of both medical professionals and the public. Media coverage of driving increased interest from patients, who may ask about testing their babies for trisomy 18, about newly established treatments for sickle cell or Alzheimer disease or about the latest celebrity reported to have had a genetic test. For healthcare providers, it can be difficult to be well-informed about the subject and understand how we can best support patients in their genetic testing journeys. The good news is that there are resources available to help navigate this evolving landscape and provide patients with the care they deserve.

Genetic testing is more advanced and accessible than ever before. Testing laboratories offer a multitude of tests catering to various medical conditions, including hereditary diseases and cancer predisposition. It is beneficial to establish strong relationships with reputable laboratories to ensure accurate and timely results for our patients. By working closely with laboratories, healthcare providers can stay informed about the latest test offerings, interpret results accurately, and provide appropriate medical interventions based on the test result. At Quest Diagnostics, our genetic counselors can aid providers by discussing the differences between genetic tests and understanding the results.

Genomic Science Liaisons (GSL) are available to work directly with providers to guide them through the genetic testing process, all the way from ordering the test to understanding the results. Andrea Paal, MS, CGC, a GSL and a neurology genetic counselor, helps providers understand the differences between various genetic tests and navigate the ordering process. “Our GSL team supports providers during every step of the ordering process. The first step is to make sure providers understand the ins and outs of the test they are ordering. Also, GSLs inform providers of new tests as they become available and provide education to help providers understand the differences in test quality, like depth and coverage, and to select the best test for their patient.”

In addition, our Genomic Science Specialists (GSS) provide on-demand support through our toll free GeneInfo phone line. Rebecca Wang, MS, CGC is a genetic counselor and GSS who helps providers calling in with pre-test or post-test questions about Women’s Health genetic tests. Some tests like QHerit carrier screening have many options and it can be challenging deciding which test to order. Rebecca helps providers understand the differences between carrier screening panels and what the possible results are. Rebecca recalls speaking with many providers about positive QNatal prenatal cell-free DNA screening results. “When screening for chromosome conditions in pregnancy, most screens will be negative. If a provider has never had a positive result before, it can be hard for them to know what to do.” Speaking with a genetic counselor like Rebecca can help providers understand what a positive cell-free DNA screening result means, what the next steps are, and how to communicate this information to their patient.

If help is needed beyond this, patients can be referred to visit with a genetic counselor prior to or after genetic testing. Clinical genetic counselors can help assess individual or family risk of an inherited condition, such as a genetic disorder or birth defects, help patients navigate genetic testing options, and understand their results. To find a clinical genetic counselor, visit the National Society of Genetic Counselors website to find someone located near you or for virtual counseling.

Quest Diagnostics offers genetic testing for neurology, hereditary cancer, reproductive health and many other specialized areas.  If you have questions about genetic testing, you can call 1.866.GENE.INFO (1.866.436.3463) to speak to a genetic counselor or visit Quest Diagnostics.