Breast Cancer Patients Want More BRCA1/2 Testing, Genetic Counseling

NEW YORK (GenomeWeb) – New research hints that the demand for genetic testing and genetic counseling outstrips the availability of these services for women with new breast cancer diagnoses.

"Women are very interested in genetic testing but many fail to receive it," Stanford University researcher Allison Kurian said in a statement. "This is particularly worrisome because it means that doctors are missing the opportunity to prevent cancers in mutation carriers and their family members."

Kurian was first author on a letter published online today in the Journal of the American Medical Association that described results from a survey of more than 2,500 women between the ages of 20 and 70 who were diagnosed with stage 0, I, or II breast cancer.

She and her colleagues found that fewer than 30 percent of patients — and just over half of those deemed high-risk based on their family histories — received testing for breast cancer-associated germline mutations in BRCA1 and BRCA2. Almost two-thirds of the group said they wanted such testing done.

Just 40 percent of the women who did get genetic testing received genetic counseling, the team noted. That proportion jumped slightly to around 62 percent in the high-risk group, though many high-risk women were left to grapple with test results without the benefit of genetic counseling.

"Genetic counselors are experts in risk assessment and communication," Kurian and her co-authors wrote, "but because of workforce limitations, some physicians must counsel and test patients without their assistance."

In an effort to gauge interest in BRCA1/2 testing and the availability of genetic testing and counseling, the researchers mailed surveys to more than 3,500 women who had undergone surgeries two months before. Just over 70 percent of participants, or 2,529 women, responded to the survey. Of those, more than 59 percent of the average-risk patients said they wanted genetic testing for germline mutations related to breast cancer risk. Nearly 36 percent said they had discussed such testing with a clinician and just shy of 18 percent had testing done.

In the 773 women considered to be at high-risk of breast cancer based on their family histories or other features, almost 81 percent wanted genetic testing. The majority of those women discussed testing with a clinician, while 53 percent of the high-risk women got germline BRCA1/2 testing, the team reported.

Perhaps not surprising, genetic counseling was available for more women in the high-risk group. Almost 40 percent of that group had had genetic counseling and 62 percent reported receiving genetic testing and counseling.

Genetic testing rates appeared to be especially low in older breast cancer patients and in women with Asian American ancestry, the researchers reported. They further noted that most women who were not tested said it was because their doctor had not recommended it — a much smaller proportion of patients said test costs were prohibitive.

"The findings emphasize the importance of cancer physicians in the genetic testing process," the authors concluded. "Priorities include improving physicians' communication skills and assessments of patients' risk and desire for testing, and optimizing triage to genetic counselors."

Researchers describe a way to share data while keeping it secure, Agence France Presse reports.

In Science this week: genetic mutations typically associated with esophageal cancer are common in older, healthy individuals, and more.

India's Council of Scientific and Industrial Research has a new director-general, according to ScienceInsider.

A new study links more than a hundred genes to autism spectrum disorder, Discover's D-brief blog reports.

Sponsored by

This webinar will detail a comprehensive strategy that a lab has put in place to evaluate  NGS oncology assays for genomic tumor profiling of plasma and tissue samples.  

Sponsored by
Sophia Genetics

With the Next Generation Sequencing (NGS), genomes sequencing has been democratized over the last decades with the detection of genomic alterations, thus replacing Sanger sequencing.

Sponsored by

This webinar will provide a first-hand look at how a leading pathology lab implemented a next-generation sequencing panel to capture comprehensive molecular tumor profiles.

Sponsored by
Genialis & Roche

While next-generation sequencing (NGS) has driven recent advances in precision oncology research, it often falls short when identifying the molecular mechanisms underlying many malignancies. As a result, alternative NGS-based approaches are needed to identify oncogenic drivers and potential drug targets.