NEW ORLEANS – Sept. 18, 2024—Expanded genetic testing can help people learn of additional genetic cancer risks, and the Dobbs decision on abortion rights may not have had the intended effect. These are among the findings being presented at the National Society of Genetic Counselors (NSGC) 43rd Annual Conference.

Patients Known to be at High Risk for Cancer May Benefit from Expanded Testing

Having expanded genetic testing may alert people with a known risk for cancer about additional risk, suggests a study from a new multi-disciplinary cancer risk and prevention clinic. The expanded testing -- which checks for a wide variety of genetic variants – showed that one in four people with a known hereditary risk for cancer were found to have a new or previously undetected genetic variant associated with additional cancer risk.

The study included 168 patients who were considered at increased risk for cancer because they had previously tested positive for a genetic variant associated with cancer, had a family history or personal history of cancer. All were offered genetic counseling and half of the patients (84) opted to have expanded genetic testing. Of those patients, 22 (26%) were found to have a new or previously undetected genetic variant associated with breast, ovarian, prostate, pancreatic, brain, blood or colorectal cancer, including variants in BRCA1, BRCA2, ATM, CHEK2, MUTYH, MSH6, PALB2 and HOXB13. In all 22 patients, the discovery of the additional genetic variant altered their medical care or cancer screening recommendations.

Only half of the people in the study opted to have expanded testing, meaning the number with cancer gene variants may be even higher, said Gwen Reiser, MS, CGC, lead author of the study and assistant professor at the University of Nebraska Medical Center Munroe Meyer Institute, Omaha. “The discovery of new genes and laboratory techniques is ongoing,” she said. “Genetic centers and high-risk cancer clinics should consider offering genetic counseling for expanded genetic testing to high-risk patients.”

Abortion Restrictions Weigh on Patient Decisions of Reproductive Health

Only about half of individuals with a risk of having a baby with a genetic condition said the U.S. Supreme Court’s Dobbs decision -- which overturned the constitutional right to abortion – may alter their decision-making for current or future pregnancies, according to the first known study to explore the impact of the decision from the patient’s perspective.

In the study, a survey was completed by 69 individuals seen at Indiana University Health prenatal, metabolism and medical genetics clinics and the Indiana University genetic testing laboratory cytogenetics division between May and August 2023, 35 of whom had a previous child with a genetic condition. When asked about the Dobbs decision:

• 71% had a negative reaction
• 57% said it had a negative impact on their mental health
• 51% said the current pregnancy termination laws may impact their reproductive decisions
• 43% said they have or are changing plans for pregnancy, including getting diagnostic testing, pregnancy termination, using different birth control methods and having a surgical procedure to permanently prevent pregnancy, using in vitro fertilization with preimplantation genetic testing, adoption, and sperm, egg, or embryo donation
• 19% said the Dobbs decision dissuaded them from becoming pregnant

“Our results suggest the Dobbs decision has not had its intended effect of eliminating abortions as there was not a statistically significant difference in those that would and would not change their reproductive plans and 40% of those who are changing their reproductive plans would still consider pregnancy termination,” said Katherine Powell, MS, CGC, lead author of the study and a genetic counselor who conducted the research while working on her master’s degree at Indianapolis University, Indianapolis. “We found most of the individuals were not confident in their understanding of the current pregnancy termination laws in Indiana.”

In the June 2022 Dobbs v. Jackson Women's Health Organization, the Supreme Court overturned Roe v. Wade (1973), which had established a constitutional right to abortion in the United States. This returned the power to regulate abortion to the individual states. Indiana, where the study was conducted, currently has one of the strictest abortion regulations, allowing abortion only for: rape and incest up to 10 weeks of pregnancy, when the life of the mother is at risk, or if the fetus has a condition that would result in death within three months of birth.

Note to editors: Media interested in viewing study abstracts, interviewing authors and/or attending sessions at the NSGC Annual Conference can contact NSGC’s PR team at 630-344-2009 or NSGCPR@pcipr.com.

About the National Society of Genetic Counselors

NSGC is the leading voice, authority and advocate for the genetic counseling profession. Membership represents more than 5,000 masters-level health professionals, who are committed to ensuring that the public has access to genetic counseling and genetic testing. For more information, visit www.nsgc.org.