Lauren Jeffries, DO, is a pediatrician and medical geneticist for the Pediatric Genomics Discovery Program (PGDP), where she provides genetic counseling to patients and their families.
In her PGDP 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,”mshe 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.
“It’s important to me that patients and families understand their testing options and diagnoses,” Dr. Jeffries says. “Although genetics may seem complicated, it doesn’t need to be."
Yale New Haven Children’s Hospital