The Future of ALS Care: Why Genetic Testing Matters

ALS (short for Amyotrophic Lateral Sclerosis) is a rare disease that damages nerve cells in the brain and spinal cord. This causes muscles to get weaker over time. Most people with ALS don’t have a family history of it (sporadic ALS). Approximately 10% of cases of ALS are inherited (familial ALS) and even some sporadic cases have a genetic basis. As advances in ALS research and treatment increase, genetic testing has become a critical piece of the puzzle.

At Genome Medical, we’re committed to ensuring that people and families with conditions like ALS receive the genetic testing and expert guidance they need. Here’s why genetic testing for ALS is essential and how we can help make it more accessible.

Why Genetic Testing is Important for ALS

Genetic testing can provide valuable insights. It can help explain the underlying causes of ALS. Identifying a specific genetic mutation can:

  • Help doctors understand how the disease might progress.
  • Show if certain treatments might work, especially new gene-focused therapies.
  • Allow other family members to learn if they might be at risk

Genetic testing for ALS also helps research. It can find rare types of genetic ALS and reveal new patterns. This information can lead to better, more targeted treatments and speed up progress toward personalized care for ALS.

Clinical Diagnosis Alone Is Not Enough

Right now, ALS is often diagnosed by looking at symptoms. But this approach misses important information. Without genetic insights, clinicians and patients are left with an incomplete picture. Without genetic testing, healthcare providers cannot:

  • Identify specific gene variants that could qualify a patient for new treatments or studies.
  • Understand how fast the disease may progress.
  • Tell if the patient’s family members have a genetic risk.

Relying solely on clinical symptoms limits the potential to offer precision medicine in ALS care.

Finding Community Through a Genetic Diagnosis

Having a clear diagnosis from genetic testing can also help people connect with others going through the same thing.  People who have or are at risk for ALS can join support groups and advocacy organizations like the ALS Association or PatientsLikeMe, where people share their experiences and offer support. Finding others who understand what you’re going through can make a big difference and help patients and families feel less alone.

Genetic Testing for ALS Is Not Yet Standard Care, But It Should Be

Despite its importance, not everyone with ALS gets genetic testing. Current evidence-based guidelines recommend offering genetic testing and genetic counseling to anyone with ALS, regardless of family history. Yet, many patients never get the opportunity.

This gap may be due to misconceptions (like testing is only useful if ALS runs in the family) and other barriers. Making genetic testing standard practice would ensure every patient has access to the most informed care options.

Barriers to Genetic Testing and How to Overcome Them

There are several hurdles to widespread adoption of genetic testing in ALS:

  • Limited awareness among providers: Some neurologists may not be familiar with the evolving genetics of ALS.
  • Access issues: Not all clinics have the infrastructure to provide genetic counseling or testing.
  • Cost concerns: Patients may worry about whether testing is covered by insurance.

To overcome these, we need:

  • Education and training for healthcare providers on the value and logistics of genetic testing.
  • Telehealth-based genetic services, like those offered by Genome Medical, to expand access to genetic testing to more people.
  • Transparent billing practices and support navigating insurance coverage.

New Treatments Are on the Way

Exciting new treatments for ALS are being developed—especially ones that target specific genes. In 2023, the FDA approved the first gene-targeted therapy for a form of ALS caused by the SOD1 gene. This was a historic milestone in personalized ALS treatment.

There are also ongoing studies for other gene types like C9orf72, FUS, and TARDBP. To join these studies, patients usually need to have a confirmed genetic diagnosis—another reason why testing is so important.

The Role of Genetic Counselors in ALS Care

Genetic counselors play an important role in supporting individuals with ALS and the healthcare professionals who care for them. Their expertise helps patients understand their test results and what they mean for their health and family. Genetic counselors can:

  • Provide education to patients and families about the implications of genetic testing, including inheritance patterns, test limitations, and potential outcomes.
  • Facilitate informed consent, ensuring that patients understand the benefits and risks of testing before proceeding.
  • Interpret complex results and explain their meaning in the context of each patient’s medical and family history.
  • Coordinate cascade testing for at-risk relatives and provide emotional support during a stressful and uncertain time.
  • Support providers by recommending appropriate testing strategies and staying up to date with evolving guidelines and research.

Involving a genetic counselor can enhance patient understanding, reduce provider burden and ensure that testing is integrated into care with clarity and compassion.

How Genome Medical Can Help

Genome Medical is a national telehealth genetics practice with deep expertise in neurogenetics and ALS. We offer:

Genetic testing is a powerful tool for those with ALS. It can guide treatment, help families, and open doors to new research. At Genome Medical, we’re here to make sure everyone gets the care and answers they need.