MDA’s Legislative Efforts to Increase Access to Genetic Medicine

Too many people living with a neuromuscular disease (NMD) have difficulty obtaining an accurate diagnosis. This “diagnostic odyssey” can take years or decades to resolve and leads to frustration and hardship for patients and their families who want answers and appropriate treatments.

One way to shorten the diagnostic odyssey is to increase access to genetic counselors, who can help patients obtain and interpret genetic testing. Although there are barriers to accessing these services, MDA is hard at work trying to remove these hurdles. We sat down with MDA’s Director of Access Policy, Joel Cartner, to get the latest update on the association’s advocacy efforts around genetic medicine.

Joel Cartner, Esq., Director of Access Policy

How do genetic counselors cut down on the time it takes to get a diagnosis?

Genetic counselors are vital to the process of receiving an accurate diagnosis for those in the neuromuscular disease community (NMD). The vast majority of conditions MDA represents are genetic in nature and therefore require a genetic test to receive an accurate diagnosis and appropriate treatment. Genetic counselors are trained to administer and interpret genetic tests which lead to an accurate diagnosis.

What are some of the barriers people face while trying to find a genetic counselor?

People can have trouble accessing a genetic counseling because it is often difficult to find a counselor in their area. This can lead to people traveling long distances to receive services (a barrier in itself) and limited insurance coverage of genetic counseling services, which then increases the overall costs of genetic testing. While genetic testing can be affordable in some instances, the cost can vary widely from state to state.[1]

Once someone receives their genetic test results, what are some other issues people face in acquiring a diagnosis?

The greatest barrier someone may face in obtaining a diagnosis after receiving their test is an often-frustrating result called “variants of unknown significance.” Variants of unknown significance are irregular pieces of a person’s genetic code that may or may not contribute to a person’s condition.[2]

What are we doing to solve what these “variants of unknown significance” really mean?

While there is still much that we do not know about the human genome, there are a few things that can be done to increase understanding of a variant of unknown significance. Some options include looking at more extensive population data, functional studies, and attempting to trace the variant in other family members of the person undergoing a genetic test.

What legislation is MDA working on to help increase access to genetic medicine?

There are two bills MDA is supporting that have been reintroduced in this session of Congress.

First, the Access to Genetic Counselor Services Act (HR 3876/ S 2332) would increase access to genetic counselors by allowing them to bill Medicare for their services. This, along with the bill’s more specific provisions, would incentivize medical providers to employ genetic counselors, thus increasing access for everyone.

Secondly, the Accelerating Kids Access to Care (HR 4758/ S 2372) would make it easier for Medicaid recipients to access out-of-state pediatric specialists, including those that focus on genetic medicine. This would be particularly impactful given that, as noted above, it can be quite difficult to find a genetic counselor in some areas.

There are additional proposed bills, that have not yet been reintroduced, that would direct the federal government to further study the benefits of genetic counseling and genetic medicine and how to further expand the field. MDA will continue to push for all of these bills to be introduced and then passed by Congress.

What can people do to help MDA get these bills passed?

Join our advocacy network at mda.org/advocacy! Our advocacy network will provide you with resources to reach out to your member of Congress to ask them to support the bills mentioned above.

Where can people go to find out more information about genetic medicine and testing?

MDA has done two recent webinars on Genetic medicine policy and our advocacy efforts. You can watch them below.

In addition, people can check out these resources provided by institutions like the National Institutes of Health:  (https://medlineplus.gov/genetics/understanding/testing/costresults/)

Finally, if you have questions about the policies discussed here, you can also reach out to MDA at advocacy@mdausa.org.

[1] https://medlineplus.gov/genetics/understanding/testing/costresults/

[2] https://www.genome.gov/genetics-glossary/Variant-of-Uncertain-Significance-VUS#:~:text=Definition&text=When%20analysis%20of%20a%20patient’s,uncertain%20significance%20(abbreviated%20VUS).