Evolving Impact of Genetic Testing in ALS

EP: 1.Exploring the Patient Journey of ALS

EP: 2.Life Expectancy for Patients with ALS

EP: 3.Humanistic Burden Associated with ALS

EP: 4.Clinical Implications Associated with Delayed Treatment in ALS

EP: 5.Genetic Testing Process in Familial ALS

EP: 6.Common Genetic Mutations Associated with ALS

EP: 7.Drivers of Cost in ALS Care

EP: 8.Considerations for Payers in Improving Access to Genetic Testing

EP: 9.Approach to Genetic Testing in ALS

EP: 10.Common Mutations Impacting the Prognosis of ALS

EP: 11.Population Health Impacted by Genetic Testing and Current Limitations in Treatment Pathways in ALS

EP: 12.Potential for Genetically Targeted Treatment in ALS

EP: 13.Unmet Needs in the Management of ALS

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EP: 14.Evolving Impact of Genetic Testing in ALS

Jennifer Roggenbuck, MS, LGC: Genetic testing has the potential to impact the management of ALS [amyotrophic lateral sclerosis] in several ways. It has always enabled us to provide patients with an answer about why they’ve developed ALS. If we’re able to identify a genetic cause, that’s the only time that we can tell a patient why they developed ALS. For many individuals, that knowledge is powerful. Many want to know why they’ve developed this disease and if it could be passed on to their children. We know from studying patient experience and preferences with genetic testing that patients with ALS feel empowered by having access to genetic testing and understanding their genetic status. In cases where we find a genetic cause, we can offer presymptomatic testing to family members. Family members can undergo prenatal or preimplantation genetic diagnosis when they have children, and they can enroll in specific natural history studies, observational studies, gene-targeted therapy trials, and 1-day approved therapies.

In SMA [spinal muscular atrophy], which is a pediatric version of ALS, we have a gene-targeted therapy that has been so impactful. For babies who would have died around 1 year of age, we’ve been able to help them survive and to walk and run. That disease is different because it’s monogenic and recessive, so the genetic underpinnings are a little different from ALS. Nonetheless, it does give us hope with a genetic diagnosis and gene-targeted therapies that we can make an impactful difference in ALS survival, both for individuals who have ALS and their unaffected family members who may be at risk. We’re hopeful that the coming era of gene-targeted therapies and neurology will also have an impact on ALS.

Laynie Dratch, ScM, CGC: How can genetic testing impact the care of ALS in the future? This is a big question, and we don’t know the boundaries. We can imagine a world in which there are approved genetic targeted therapies for ALS, in which case a genetic diagnosis would mean crucial and critical access to these treatments. But it’s hard to say what might develop someday. The science is advancing rapidly. It’s possible that this could revolutionize care. Let’s say somebody knows they have risk for ALS but doesn’t have symptoms. A genetic diagnosis could lead to access to a treatment prior to symptom onset, which could greatly delay symptom onset or prevent disease altogether. We can think about the immediate future or the broad future. It’s possible that these genetic technologies could change the whole face of ALS care. We think about not only a individual diagnosed with ALS but also patients in waiting—individuals who know they have genetic risk but don’t have symptoms. I’m excited to see where genetics will go in ALS care. It’s 1 of the most exciting pathways to advancement in ALS care.

Transcript edited for clarity.