In the latest episode of The Genetics Podcast, host Patrick Short sat down with Sharon Terry, the CEO of Genetic Alliance, to discuss her extraordinary journey from a homeschooling mother to a leader in rare disease advocacy. Sharon has pioneered patient-led research, built innovative biobanking solutions, and played a key role in landmark policies like the Genetic Information Nondiscrimination Act (GINA). Their conversation covered everything from the challenges of running a patient-led biobank to the future of rare disease drug development and international collaboration.
From mom to advocate
Sharon's entry into the rare disease world was deeply personal. In 1994, her children were diagnosed with pseudoxanthoma elasticum (PXE), a rare genetic disorder that was largely understudied. Faced with the lack of available research or treatments, she and her husband took matters into their own hands. By reading scientific papers, collecting patient samples, and even borrowing lab space at Harvard to conduct research, they identified the gene responsible for PXE and patented it, solely to ensure that research remained patient-driven and accessible.
This hands-on, patient-led approach became the foundation of PXE International, the organization Sharon founded to advance research and advocacy for the disease. But it didn’t stop there. Sharon soon realized that the issues her family faced were shared across the entire rare disease community, leading her to join Genetic Alliance, where she has continued to advocate for more patient involvement in research.
A new model for biobanking
One of the biggest hurdles Sharon faced in PXE research was the lack of institutional willingness to share data and samples. She saw firsthand how academic and commercial biobanks often acted as gatekeepers rather than partners. This frustration led her to pioneer the first patient-led biobank, ensuring that patients had control over how their samples and data were used.
By creating a layperson-led biobank, Sharon and Genetic Alliance developed an infrastructure where patients have full decision-making power. Participants can choose who accesses their data, withdraw at any time, and ensure that research remains aligned with their interests. This model has been instrumental in driving faster, more collaborative research, especially in diseases with small patient populations.
The role of money in rare disease research
Funding and monetization of genetic data remain contentious topics in research. Sharon emphasized the need to treat patient data as a pre-competitive asset, not a post-competitive product. Unlike traditional biobanking models that commercialize access to samples, she advocates for a partnership approach where companies contribute funding and resources in exchange for ethically-governed access.
She noted that while private industry plays a critical role in drug development, there needs to be a paradigm shift:
- Data should be freely shared to accelerate research
- Commercial partnerships should bring tangible benefits back to patient communities
- Governments should recognize rare diseases as a public health priority and subsidize research accordingly
The future of rare disease drug development
Sharon has witnessed a major shift in the pharmaceutical industry’s approach to rare diseases. Initially, the Orphan Drug Act spurred interest, but as precision medicine has made all diseases more stratified, some companies are pulling back from rare disease research due to the high costs and difficulties in running clinical trials.
She argues that patient groups can and should play a greater role in accelerating drug development. Advocacy organizations have proven their ability to recruit for trials faster and more efficiently than contract research organizations (CROs), demonstrating the value of direct patient engagement.
As someone who played a key role in passing GINA in 2008, Sharon discussed the ongoing debate about whether the law needs to be updated. While it protects against genetic discrimination in employment and health insurance, it does not cover long-term care or life insurance. However, reopening the law in the current divided political climate could risk weakening its existing protections.
She remains deeply concerned about the broader implications of genetic data privacy, especially as sequencing becomes routine in healthcare. Without stronger safeguards, she fears that genetic information could become another tool for economic discrimination.
IHOPE Genetic Health: A global initiative to sequence undiagnosed children
One of Sharon’s most ambitious projects is IHOPE Genetic Health, a program focused on providing whole-genome sequencing for undiagnosed children in low- and middle-income countries. Originally launched by Illumina, the initiative has now been handed over to Genetic Alliance, where Sharon and her team are scaling up operations.
Through partnerships with labs around the world, including SickKids, the New York Genome Center, and Mendelics in Brazil, IHOPE provides free sequencing and ensures that families retain ownership of their genetic data. In 2024 alone, they sequenced 500 children and aim to double that number in 2025.
Final thoughts
From spearheading patient-led research to fighting for global genetic equity, Sharon Terry has left her mark on the landscape of rare disease advocacy. Her work underscores the power of patient-driven initiatives and the urgent need for systemic change in how we approach genetic research, biobanking, and drug development.
Listen now:
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