Anna Öfverholm: Assessing and managing the risk of hereditary cancer
In families with hereditary cancer, healthy individuals are offered an assessment to evaluate their risk. Anna Öfverholm’s research focuses on how both healthcare professionals and healthy relatives manage knowledge about hereditary cancer risk.
ANNA ÖFVERHOLM
Dissertation defense: 22 November 2024 (click for details)
Doctoral thesis: Cancer genetic risk assessment, studies on genetic testing, genetic counselling and risk management
Research area: Oncology
Sahlgrenska Academy, The Institute of Clinical Sciences
For the past 25 years, the Cancer Genetics Clinic at Sahlgrenska University Hospital has been conducting assessments of healthy individuals in families with hereditary cancer risk.
“Many of the people who come to us are healthy but want to know if they carry a genetic mutation that significantly increase their risk for a certain type of cancer. They also want to know if they can undergo regular screening or even have risk-reducing surgery. We offer them consultations and genetic testing,” says Anna Öfverholm, a doctor working at both Clinical Genetics and the Cancer Genetics Clinic.
According to Anna Öfverholm, there are clear advantages to knowing one’s genetic predisposition, but there are also difficult downsides.
“Despite medical and lab-based advancements, core questions remain about how we manage knowledge about risk, how effectively we can monitor it, and what it means for patients who are healthy but at risk. It is important to understand how families experience these issues and how we in the healthcare system can handle this in the best way possible.”
BRCA and expanded genetic screening
Women who carry mutations in the so-called BRCA genes have a significantly higher risk for both breast and ovarian cancer.
“We conducted a study in the Västra Götaland region to examine how effective it is for healthy women with BRCA mutations to have risk-reducing surgery. And in a national study, we describe the expansion of genetic testing for hereditary breast cancer, from the well-known BRCA genes to a panel that includes several moderate- and high-risk genes,” explains Anna Öfverholm.
Receiving a letter about cancer risk
Two other studies in the doctoral thesis focus on genetic counselling and the dissemination of information within families.
“In one study, we examined how healthy relatives at risk experience receiving a letter from the healthcare system regarding hereditary risk. The established approach in Sweden and internationally is that patients themselves inform their family members that a genetic mutation exists and that they can seek an assessment from healthcare services,” says Anna Öfverholm.
“In the other study, we explored the attitudes of doctors, nurses, and genetic counselors in cancer care and cancer genetics clinics regarding discussion with patients about the potential implications of their genetic test results for their relatives.”
Sometimes, what is fun is also difficult
Can you share an important research finding and explain its potential practical benefits?
“The studies have deepened our understanding of how healthy relatives at risk experience receiving risk information and how healthcare professionals feel about discussing with their patients that others may also be affected by the test results. It highlights that we may need to develop the existing practice in cancer care and also review the issue of responsibility. Perhaps it would be beneficial to clarify and facilitate the shared responsibility between healthcare and the patient when it comes to ensuring that relatives actually receive information so they can choose if they want to know more for themselves.”
What has been the most enjoyable and the most difficult part of your doctoral project?
“The most enjoyable part has been collaborating creatively with research colleagues and exploring various research methodologies. Sometimes, the most enjoyable things have also been the most challenging.”
Text: Jakob Lundberg