dr. lauren jeffries

Doctor Lauren Jeffries is a pediatrician and medical geneticist for the Pediatric Genomics Discovery Program (PGDP), where she provides genetic counseling to patients and their families. 

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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.”

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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. 

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“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." 

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Dr. Jeffries is leading on the GeneDx / Yale University research study on CRELD1.