Penn Medicine is the first medical center regionally and one of the first nationally to offer a personalized preventative genomic evaluation, a valuable tool in identifying risk factors for future disease.
Through exome sequencing, we can identify risk factors for certain diseases and other information to guide you and your doctors in making important decisions about your future health care.
Genomic screening can tell you:
- Your genetic-based risk for developing a range of conditions, including cancers, cardiovascular disease and neurological conditions such as Alzheimer's disease
- Your status as a carrier for conditions that could be passed to your children
- Which treatments and medications are likely to be effective, and which should be avoided
Research shows that a significant number of people who have genomic screening find at least one genetic variant that should be discussed with their doctor. 99 percent of those screened had a pharmacogenetic variant that could impact their medical treatment choices.
What to Expect from Genomic Screening
You will meet in person in Philadelphia or have a video meeting with a genetic counselor to discuss testing and possible outcomes. As part of this, the counselor will review your available medical and family history and will collect any additional information that may be necessary to tailor testing options and aid in results interpretation.
The test itself only requires a saliva sample. After the results are analyzed, you will meet in person in Philadelphia or have a video meeting with a board-certified medical geneticist, a genetic counselor and a pharmacist who specializes in genetics. The clinical genetics team will make recommendations for specialty care and family member follow-up. Our care team can assist in coordinating any recommended follow-up appointments at Penn Medicine.
Your results will be available via myPennMedicine (your secure, online patient portal) and will be provided to your primary care physician to help guide future medical decisions.
Make an Appointment for Genomic Screening
Genetic or genomic screening can be ordered by a Penn Medical Genetics physician. In some cases, such as family history of a particular condition, some proactive testing may be covered by health insurance. These services are provided at a discounted rate for Penn Passport members.
To make an appointment for a preventive genomic screening, contact:
Stephanie Asher, MS, CGC
Senior Genetic Counselor