Offering genetic testing to persons diagnosed with FTD/ALS disorders should be a routine part of clinical care, Laynie Dratch, ScM, CGC, of Penn Medicine, said in a December 2023 interview with Neurology Podcast.

In the episode, Dratch and host Gordon Smith, MD, of Virginia Commonwealth University, discuss a review article co-authored by Dratch and recently published in Neurology: Clinical Practice. In the review, Dratch and her co-authors highlight a growing trend in FTD/ALS research, demonstrating that a lack of family history doesn’t necessarily rule out a genetic cause. Furthermore,  FTD/ALS research has also advanced to the point that specific genetic biomarkers can now be targeted by therapeutics – Dratch and Dr. Smith highlight the FDA approval of a drug (called tofersen) that targets the SOD1 gene, a known cause of ALS.

“The tofersen approval is palpable in our field,” Dratch said. “The approval has made it so that everyone [affected by] ALS, even if they don’t have a strong family history, has a little bit of hope in that maybe if this is genetic, there is something I can do.”

Dratch and her co-authors note that while genetic testing is recommended for anyone with an FTD/ALS diagnosis regardless of their family medical history, it is still vital for clinicians to collect personal and family medical information to help guide the genetic testing strategy and provide more context for interpreting the results. In addition to determining if past family members were diagnosed with FTD or ALS, Dratch notes that it is just as important to look for signs that something may have been missed.

“Historically, it was harder to diagnose these conditions,” Dratch told Dr. Smith. “People may have visited the wrong clinician — or even if they were diagnosed, they may have been uncomfortable sharing this information with family members. That’s why it is important when taking a family’s medical history to be aware of that and ask questions around it.”

Dratch said this can include asking about uncharacteristic personality changes or movement difficulties later in life. In cases where there may have been a diagnosis of another disease like Alzheimer’s, Dratch noted that the circumstances matter, such as whether the diagnosis was confirmed via autopsy.

When progressing with genetic testing, clinicians must discuss the medical, social, and psychological implications of the test results, Dratch and her co-authors write. While clinicians should be prepared to have these discussions themselves, it is also crucial for them to recognize when to refer families for genetic counseling. Genetic counselors can not only be neutral arbiters during family discussions, they can also explain unexpected results and guide family members about the most appropriate test for their situation. Genetic counseling goes beyond testing, Dratch notes – it is about getting to know the family as a whole and finding ways to work the process around their needs.

However, access to genetic counselors can be hit or miss for many medical professionals.

“The shortage of genetic counselors isn’t new,” said Dratch. “This is something our field has been facing and has been trying to address for a while. There’s only about 6,000 genetic counselors in the United States. As a field, we’ve been really trying to think about alternative service delivery models, supplementary education, and how we can better work with healthcare providers.”

Dratch told Dr. Smith that the review serves as a guide for providing better care while working around this shortage as the FTD/ALS field reaches a new stage of genomic medicine. When someone without a diagnosis or symptoms is undergoing predictive genetic testing to determine their potential risk, Dratch and her co-authors recommend always referring them to a genetic counselor due to the potential risks. When someone diagnosed with FTD/ALS is undergoing diagnostic genetic testing to try to learn the cause of their symptoms, the authors recommend a referral to a genetic counselor when the diagnosed person shows atypical symptoms, if family dynamics create challenges, or when clinicians need assistance developing a testing strategy.

One problem within the genomics field that Dratch highlights is the significant lack of diversity, with most research to date being conducted on people of white European descent. Subsequently, risk-creating genetic variants that primarily affect non-white groups may not have been identified yet or are misidentified as having an “uncertain” risk.

“There might be less we can do to clarify the significance  of an uncertain variant, which has implications for the person in front of you and their entire family,” said Dratch. “It is important that we continue to address this problem by recruiting diverse participants into research. It is also important that we are equitably offering genetic services to people of all backgrounds.” AFTD strongly recommends genetic counseling as a first step to consider if genetic testing is the right choice for you – a genetic counselor can address potential risks, help develop a testing strategy, and weigh the potential impacts of the results.

Do you have questions about genetic testing or counseling? AFTD’s HelpLine can provide resources and guidance to help you navigate learning your genetic status – contact the HelpLine at 1-866-507-7222 or info@theaftd.org.