A Patient Participant’s Perspective on the Potential of Human Genetics & Genomics Research

A female doctor sits at her desk and chats to an elderly female patient while looking at her test results
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ASHG, alongside our advocacy partners, continues to help Congress see the impact of human genetics and genomics research, and that robust and sustained funding for the NIH is vital for advancing scientific progress and creating hope. The Messenger recently spoke with a patient participant (who wished to remain anonymous) enrolled in NIH’s Undiagnosed Diseases Network (UDN) to discuss their diagnostic journey under this program and the promise and potential of human genetics & genomics research.

The UDN is a nationwide network of clinicians and researchers who use both fundamental and clinical research to improve the level of diagnosis of rare and undiagnosed conditions, promotes the use of genomic data in disease diagnosis, and engages researchers to uncover the underlying disease mechanisms so that treatments may be identified.

The fiscal year (FY) 2023 omnibus appropriations bill, passed by Congress and signed into law by President Biden in December 2022, provided $18 million to continue funding the UDN and directed the continuation of the coordinating center, all clinical sites, DNA sequencing core, central biorepository, model organisms screening center, and other necessary testing in the pursuit of diagnoses. Previously housed under NIH’s Common Fund, the National Institute of Neurological Disorders and Stroke (NINDS) will become the new home for this research program. Support for UDN components through NIH Institutes and Centers ensures a trans-NIH approach to supporting UDN activities beyond the 10-year lifespan of a Common Fund program.

The UDN is a powerful example of the benefits and potential of fundamental and clinical human genetics research and its impact for health. As ASHG advocates for research investment at NIH, UDN and its impact on patient participants offers one of many examples we use to communicate human genetics potential. Learn more through ASHG fact sheets and other resources at ASHG’s advocacy center.

What led you to participate in the Undiagnosed Disease Network (UDN) research study?

At 18 months, it became obvious that something was very wrong with my limbs that left the doctors bewildered. The next 13 years were spent going down a dark spiral of horrifically painful tests and a surgical procedure to try to find answers that never came. Medical treatments and tests of the time were something akin to cruel, especially as a child. When I was a teenager, I decided that I had had enough. Medical science of the time was not able to provide any answers, and my health was stable at that point even though doctors often warned that I would not live past my 20s. I wanted to make the most of the short life I was told to look forward to.

However, time and the study of human genetics continued to creep along, and I found my way to the Undiagnosed Diseases Network in 2020 at the age of 42 after consulting with the stellar neurologists and geneticists at the University of Washington about my lack of diagnosis. I was amazed that such a collective of medical experts existed and that they were able to conduct advanced tests that other doctors didn’t have access to. I finally felt like there was a chance to know more.

trusting kid with doctor celebrate good medical health care treatment result
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How has your participation in research impacted you and/or your family?

My doctor and the Seattle UDN team advocated for me and managed to get advanced genetic testing done with the help of multiple medical partners throughout the country. Finally, I had answers. My family hadn’t been able to go with me to my first UDN appointment because of hospital Covid protocols, but they crowded around me as I spoke on camera – eager to hear every detail after 43 years of searching. They had found the known genetic variant for Charcot-Marie-Tooth disease type 2A (CMT2A) on an area of my DNA (introns) that is not tested during standardized tests.

I was grateful to be able to tell my brothers that they were not carriers. It wasn’t until I was finally able to reach out to a community of people who have CMT that it really dawned on me what a diagnosis meant. It means access to information, community and understanding that had long been closed off to me. It meant finally understanding the complicated, rare body that I had inhabited for so long. Within weeks, my health and comfort had markedly improved just because of the knowledge gained from peers that I finally had access to because of the hard work of the UDN.

What have been the positive outcomes of your participation in the UDN?

In addition to solving the huge mystery of my genetics, being able to answer questions that had colored so much for my family. I was also able to finally seek further medical care specifically related to my primary diagnosis. In addition to my primary disorder, there were secondary medical issues (auditory processing problems, prolonged muscle spasms, etc.) that I did not know were related until after I received my primary diagnosis. I can now support my care in more specific ways because I have specific information.

The UDN team also continued to advocate for therapies that would work for me, and they were able to offer me a custom antisense oligonucleotide (ASO) therapy recently because of my unique genetics. I ultimately decided not to take the therapy because of the treatment risks and my advanced stage of my disability, but I feel so much gratitude for the medical research community that it is overwhelming because I know that people earlier in their disability progression will soon have access to much more effective and humane treatments.

How do you see your role as an advocate for human genetics and genomics research?

My mother got me involved in peer support within the larger disability community at a very young age, and I continued on that path for many years, even starting my own organization to support women with disabilities. I see my role as an advocate for human genetics as an extension of that. I have made it much further in this process than a lot of people have who are still searching, even though it took me over 42 years to find answers. So, it is my responsibility to help people still searching to find their own path forward within the difficult to navigate medical system.

It is also equally important to work with the medical research community to connect with those on the front lines of knowledge in a way that meaningfully drives us forward for the benefit of everyone.

Modern Medical Research Laboratory with Computer, Microscope
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What would you want a researcher who studies rare diseases to know about what research means to you?

It is extraordinarily isolating to live with a rare disease, especially if it is congenital. For families, searching for answers becomes a driving force when you have a child that is struggling. So many avenues of support are only open to children and adults with specific diagnoses. For the child, that diagnosis (or lack thereof) is the key to unlocking both a huge part of their personal identity and also access to a community that understands their specific needs and experiences in a way that no one else ever will. The work that you do as a researcher continues to give families and individuals answers that guide and impact their lives in ways that are unimaginable to most people.

Special thanks to the individual who was willing to be interviewed for this newsletter and share their story about participating in human genetics research. Thanks also to Azma Parhin, MD, Research Coordinator, and Andrew Stergachis, MD, PhD, who helped to facilitate this interview.

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