When Samantha Schilit was fourteen years old, a genetics test at a twins festivalrevealed that her andher twin sister were identical. This discovery shaped Sam's career trajectory. She became fascinated by the topic of gene regulation, which describes how the same genome can be interpreted differently to create distinct characteristics. Sam pursued research in this field during her undergraduate andmastersstudies in the Molecular Biology and Biochemistry department at Wesleyan University.
To extend her academic interest in human medical genetics beyond the bench, Sam and her identical twin explored issues of genetic privacy and ownership in the field. Sam received one of the first clinical whole genome sequencing tests available to ostensibly healthy adults, which did not require any disclosure of her identical twin status or informed consent from her sister. The sisters described the ethical dilemmas they faced in the Journal of Genetic Counselingarticle “My Identical Twin Sequenced our Genome.” Their findings, which advocate for resources to inform and protect vulnerable relatives of the genetic test recipient, have gained widespread attention in both the genetics community and the general public through academic commentaries from genetic counselors and a clinical geneticist as well as media coverage including articles from MIT Technology Review, Best DNA tests, and Naked Security. Sam continues to inform genetics education by disseminating classroom materials to teachers, authoring questions for the Journal of Genetic Counseling Continuing Education (JGC CEU) Quiz program, presenting invited talks, and speaking in teacher workshops through the Personal Genetics Education Project. Sam believes that her story gained so much attention because the general public is inherently interested in genetic testing. This phenomenon is only getting stronger in the era of precision medicine and as testing becomes cheaper and more accessible to consumers. Sam developed inspiration for The Patient Genome Project during this time because she discovered that there are limited venues for patients to share their personal narratives.
Sam hopes that The Patient Genome Project will provide a resource to prospective and current patients, as well as the healthcare providers on the other side of the genetic test. As both a patient and a geneticist, Sam has discovered the benefits of understanding both sides of these clinical interactions. She hopes that this project will make her more informed about patient needs as she pursues a future career in diagnosis and counseling of patients with genetic disorders.