Lauren Jeffries, DO

Lauren Jeffries, DO, is a pediatrician and medical geneticist for the Yale Diagnostic Center of Excellence, a clinical site for the Undiagnosed Disease Network. As clinical manager of the program, she coordinates participant-facing aspects of this research study and also offers genetic counseling to patients and their families.

In her role, Dr. Jeffries helps families understand the information on what genetic testing can and cannot provide. “Even if a condition isn’t directly treatable with medication, just having a diagnosis or knowledge of a specific variant can be very powerful,” Dr. Jeffries says. “For families looking for answers, having a diagnosis offers new insight to their child’s condition, guidance as to appropriate resources and supportive therapies, and a means of support for those who wish to connect with similarly impacted patients and families.”

Initially drawn to pediatrics because it offered the opportunity to develop relationships with patients and families while providing ongoing care, Dr. Jeffries discovered that as a medical geneticist, her role as a caregiver could continue throughout a patient’s lifetime. “For some of our most complicated patients, the geneticist is like a second primary care provider,” she says, referring to the fact that often geneticists have to be aware of a constellation of health issues potentially affecting the patient—not just one part of the body.