Tanya Miller was always interested in what she could learn from her DNA about her ancestry, family heritage and traits. The 50-year-old athletic trainer from Cumberland County participated in other DNA testing programs and when she got information in her MyWellSpan portal about The Gene Health Project, she wanted to know more.
This community health research project screens participants for breast and ovarian cancer, familial hypercholesterolemia (FH) or hereditary high cholesterol and Lynch syndrome, which can cause multiple types of cancer. Little did Tanya know her participation would reveal that she has potentially two life-altering genetic conditions.
Tanya consented and gave a simple blood sample in September 2024. In a follow-up consultation with a genetic counselor in early January, Tanya learned that she tested positive for both FH and Lynch syndrome.
This finding is rare. Statistics show that just one in 75,000 people will screen positive for more than one condition in this project. Once her results were ready, Tanya spoke with Dr. David Kann, a cardiologist and co-principal investigator for the Gene Health Project, as well as two different genetic counselors, who were all supportive and informative. They provided her with detailed information about both conditions, including a letter to share with her family, explaining the significance of her results due to the hereditary nature of these conditions.
Tanya embraced the saying that “knowledge is power,” seeing subspecialists for her FH and Lynch syndrome findings.
Though Tanya has been on cholesterol medication since she was 30 years old, she is now learning that FH is different than just having high cholesterol. She’s working closely with Dr. Kann to manage her LDL, which is a key concern in this diagnosis. Tanya is also making some lifestyle choices with her diet and taking medications to decrease her risk of heart disease and having a heart attack.
“The lifespan of people with undiagnosed FH can be shortened by 15 to 16 years, so when we learn about this diagnosis, we can significantly decrease the risk of heart disease and help people live healthier, longer lives,” Dr. Kann says.
Due to her Lynch syndrome diagnosis, Tanya is at higher risk for colon, skin and gynecologic cancers. Her gastroenterologist emphasized the importance of her findings and recommends that she have a colonoscopy every year as well as an endoscopy every other year to monitor her more closely for potential cancer risks. Tanya is also scheduled to see a dermatologist in September to assess her risk of melanoma, a type of skin cancer.
In mid-May, Tanya underwent a total hysterectomy performed by Dr. Ali Mahdavi, a gynecologic oncologist at WellSpan Chambersburg Hospital. This removed the risk of endometrial and ovarian cancer. Dr. Mahdavi found no cancer in her tissue.
Currently, Tanya is researching which side of her family the genetic conditions come from. She has no children but has encouraged her immediate family members to participate.
Tanya’s journey has resulted in significant lifestyle changes. “I am more vigilant about my health, and I’ve taken proactive steps to manage my conditions,” Tanya says. “I’ve truly learned the value of genetic screening and taking steps to prevent disease. I have also encouraged my friends and family to participate in The Gene Health Project so they can learn about their risks and take steps if needed.”
Over a four-year period, WellSpan is seeking to enroll 100,000 volunteers to participate in the Gene Health Project. Anyone in Pennsylvania over the age of 18 who has not had a bone marrow transplant is eligible to participate in the project at no cost. So far, more than 43,000 volunteers have participated helping over 825 people find out about positive results.
Click here to enroll in or learn more about the Gene Health Project.