Patient Corner
Real people share stories of empowerment after learning their genetic information.
Meet baby Cora and her mom. Through our NIH-funded BabySeq Project, Cora was diagnosed with partial biotinidase deficiency, which was missed on her traditional newborn screening test. This information helped her doctors recommend a simple vitamin to prevent irreversible health problems.
Meet Chris, a Partners HealthCare Biobank research participant who learned about her genetic risk for developing certain cancers. This information allowed her to be proactive about her healthcare and detect breast cancer at an early, treatable stage.
Meet Tom, a Partners HealthCare Biobank Research Participant, who was discovered to have a genetic variation for Fabry Disease. This information helped his doctors provide more appropriate, personalized care - and was very important for his family’s health.
Meet Katie and John. Given Katie's family history of two brothers with genetic syndromes, they pursued genetic testing to learn about what they might pass on to their future children.
Meet Brian, who through the Partners HealthCare Biobank learned that he was a carrier for familial adenomatous polyposis (FAP). Watch to learn about his journey!
Gaia Ceccaroli, Genomes2People/The Franca Fund Advisor shares her personal preventive genomics story and the road to discovery about her health in a video blog here for a new series highlighting genome sequencing experiences.
Share your story
Your story is as unique as your DNA.
Contact us to consider sharing your experiences with genetic sequencing and proactive health care.