As a PhD candidate at Harvard Medical School, Samantha Schilit studies the genetics of infertility. Inspired by her graduate training and National Science Foundation (NSF) Graduate Research Fellowship, Sam advocates for genetic testing patients and their families by educating the general population on informed consent and genetic testing implications. She authored “My Identical Twin Sequenced our Genome,” an article in theJournal of Genetic Counselingabout the ethics of genetic testing in identical twins. Her story has already reached an audience of over a million people. She hopes to continue demystifying the genetic testing experience.
Sam believes that her story gained so much attention because the public is inherently interested in genetic testing in the era of personalized medicine. However, through the publishing process, Sam discovered that there are limited venues for patients to share their personal narratives. She founded The Patient Genome Project, a platform to curate narratives about genetic testing from patient perspectives, that will ultimately be published in a book to help to normalize patient experiences, inform prospective patients, and illustrate realistic expectations for testing results.
My Identical Twin Sequenced our Genome
What happens when two individuals with virtually the same genome have opposing views on getting their whole genome sequenced? Whose rights take priority? How are the interests of both individuals protected? Are decisions regulated at the level of the individual, the physician, or the government?
Sam Schilit wanted to find out. As an identical twin and a geneticist, she was the perfect candidate to explore this issue in the field with her sister Arielle Schilit Nitenson. Sam received one of the first clinical whole genome sequencing tests available to ostensibly healthy adults, which did not require any disclosure of her monozygosity or informed consent from her twin. As the sisters navigated this process, their parallel experiences highlighted a surprising number of ethical challenges. The conflict of balancing patient autonomy and the interest of family members is widespread, and Sam and Arielle discovered that these issues are far from reaching consensus amongst genetics and ethics communities.
The mission of The Patient Genome Project is to curate narratives about genetic testing from patient perspectives. The collection of stories will be published in a book that will serve as a resource to prospective and current patients.
While academic journals serve as a venue to report physician and scientist experiences with genetic testing, the technical terminology and paywalls associated with academic journals make this information inaccessible to the general public. More relatable patient anecdotes could better inform the public about genetic testing, but limited opportunities exist for patients to share their personal narratives. This is especially problematic because a disproportionate amount of sensationalized patient stories are picked up by the media, resulting in a skewed view of the current state and capabilities of genetic testing.
By providing a diverse compilation of patient stories, The Patient Genome Project will provide a more balanced view of genetic testing from the patient perspective. A comprehensive set of stories will help to normalize patient experiences, inform prospective patients, and illustrate realistic expectations for testing results.