Genetic testing for people living with a rare disease is of great importance, especially since effective treatment can only be achieved following an accurate diagnosis. This was the focus of a session titled “Challenges in Access to Genetic Testing for Rare Disease Patients” that took place on October 19, 2021, at the 2-day National Organization for Rare Disorders (NORD) Breakthrough Summit.

The speakers were Stephanie Coury, MS, CGC, and Asma Rashid, both senior clinical genetic counselors at Boston Children’s Hospital in Massachusetts. Additional speakers included Maximilian Muenke, MD, the chief executive officer of the American College of Medical Genetics and Genomics (ACMG), and Tamar Thompson, the vice president of the US Government Affairs and Policy at Alexion.

They said that high cost and health insurance limitations, workforce shortage, and the equitable availability of testing are some of the challenges that currently limit patients’ access to genetic testing.

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The session covered current efforts to expand access to genetic testing such as the development of evidence-based guidelines, expanding medical geneticists, and the development of policy to mitigate these hurdles for patients.

The Value of Genetic Testing

Genetic testing allows families to put a name to what is happening to their child. It can also help other providers understand what is going on and give families a sense of community, Coury said.

Dr. Muenke added that having a diagnosis is priceless because it ensures the initiation of treatment and allows families to make long-term plans for their child and family.

He also said that reaching a diagnosis is extremely important even though there may currently be no cure for the disease because it helps in symptom management, allows families to join support groups, and also allows families to meet other families affected by the disease, which ensures they are not isolated.

Challenges Limiting Access

The biggest challenge that limits access to genetic testing is cost and lack of insurance coverage, the panelists said. Rashid said that certain insurances require authorization before a genetic test can be done, which means that time passes before a test can be ordered.

Another challenge limiting access to genetic testing is the significant shortage of medical geneticists and the uneven distribution of providers throughout the US, as well as the lack of diversity among professionals working in the field.

Finally, the lack of awareness among policymakers of the significance and need for genetic testing has been highlighted as another factor limiting access to genetic testing. 

Overcoming These Challenges

Dr. Muenke talked about ACMG’s efforts in improving these challenges, including the development of evidence-based guidelines, internship programs, fellowships, and lecture series for medical students.

Trying to find research studies that provide genome sequencing to families as part of the study was suggested as a way to access the service in case of lack of insurance coverage.

“What I really hope to see at some point is more equitable availability of this testing to everybody,” Coury said. She added that more checks from the insurance companies to the providers could help them better understand the implications of genetic testing.

The panelists also talked about the importance of patient advocacy and its potential in raising awareness, thereby potentially increasing access to genetic testing.


Challenges in access to genetic testing for rare disease patients. Presented at: NORD Breakthrough Summit 2021: October 19, 2021; Virtual.