Genetic counselors turn to unconventional counseling to meet demand for genetic testing

Imagine receiving genetic test results for a disease you could develop later in life without having anyone with whom to discuss your options for managing the risk. That’s becoming a common occurrence as people turn to the Internet and other outlets for genetic testing without genetic counseling. In an effort to broaden accessibility to genetic counseling, researchers are exploring non-conventional counseling methods that challenge traditional approaches.

“The delivery of genetic test results for a disease like cancer can trigger a range of emotions and can be more distressful than anticipated-- particularly when there’s been no counseling and the results are ‘positive’,” explains Beth N. Peshkin, MS, CGC, senior genetics counselor at Lombardi Comprehensive Cancer Center, part of Georgetown University Medical Center, and educational director of the Jess and Mildred Fisher Center for Familial Cancer Research. “While in-person genetic counseling is ideal, it’s not convenient for people who live in rural areas or don’t have access to an academic center.”

According to Peshkin, genetic counseling and testing, particularly for adult onset conditions, is a trend that will continue to grow as additional genes are identified and as such testing diffuses into mainstream clinical care. Telephone counseling has been utilized with increased frequency despite a lack of data about its efficacy and concern about its use as a substitute for face-to-face contact with patients.

“In anticipation of this increased demand, it is imperative we find alternatives to traditional genetic susceptibility counseling and that we develop and evaluate these possible options now,” Peshkin explains. “A successful alternative would be one that effectively delivers information but allows greater accessibility, such as telephone counseling.”

To address these issues, Peshkin and her colleagues have launched a randomized clinical trial –the largest to date— at Lombardi to evaluate telephone genetic counseling versus in person (standard) genetic counseling among women at high risk of carrying a BRCA1/2 mutation. The study is outlined in the Spring edition of the journal Genetic Counseling posted online today.

“Many of us favor face-to-face counseling but the reality is the telephone may allow us to reach more people, more efficiently” says Peshkin. “It makes sense to develop interventions that parallel the traditional model while extending its reach and deliverability.”

Peshkin points to the abundant clinical data on the epidemiology of BRCA1/2 and the efficacy of various management strategies. Also, evidence attests to the efficacy of traditional genetic counseling at increasing knowledge, prospectively improving the accuracy of perceived risk, and increasing the awareness of the risks and benefits of testing.

“Patients appear to be highly satisfied with the traditional format of comprehensive genetic counseling so a study among individuals undergoing BRCA1/2 testing is an ideal population on which to evaluate alternative models of counseling,” Peshkin says.

Source: Georgetown University Medical Center

Related stories:

Second breast cancer may be greater than thought for high-risk women without BRCA mutations
A preliminary analysis of ongoing research suggests that high-risk women with breast cancer who do not have a BRCA1/2 mutation may face a greater chance for developing a second breast cancer than previously thought. With the increased risk of cancer in these women, should sentinel node biopsy be considered at the time of prophylactic mastectomy, and how can women best be counseled after these findings?
Researchers discover gene for branchio-oculo-facial syndrome
Boston, MA--In a collaborative effort, researchers from Boston University School of Medicine (BUSM) have discovered that deletions or mutations within the TFAP2A gene (Activating Enhancer-Binding Protein) result in the distinctive clefting disorder Branchio-Oculo-Facial syndrome (BOFS).
At Home Genomic Tests for Disease Risk Premature
The recent marketing of "at home" genomic tests for disease risk may be premature, according to Dr. Kenneth Offit, MD, MPH, Chief of the Clinical Genetics Service at Memorial Sloan-Kettering Cancer Center (MSKCC).
Family communication impacts attitude about genetic counseling/testing for breast cancer
Whether or not relatives talk about the family’s history of cancer significantly impacts attitudes and knowledge about genetic counseling and testing for those at moderate risk of developing breast cancer, according to a new preliminary study presented today at the American Society for Preventive Oncology meeting in Bethesda, Md.
Applying genomic medicine into clinical practice for chronic diseases still in the early stages
A large gap exists between what knowledge is available about genomic medicine and incorporating it into clinical practice for assessing the risk of and treating common chronic diseases, such as cardiovascular disease, diabetes mellitus, and cancer, according to a systematic review in the March 19 issue of JAMA, a theme issue on Genetics and Genomics.
Genetic research unveils common origins for distinct clinical diagnoses
Researchers at Johns Hopkins have discovered that two clinically different inherited syndromes are in fact variations of the same disorder. Reporting in the April issue of Nature Genetics, the team suggests that at least for this class of disorders, the total number and “strength” of genetic alterations an individual carries throughout the genome can generate a range of symptoms wide enough to appear like different conditions.
Researchers validate new model for breast cancer risk assessment in multiple ethnic groups
Researchers at the University of California, San Francisco have developed a way to quickly estimate a woman's risk for invasive breast cancer. The new model, based on a measure of breast density that is already reported with the majority of mammograms today, is the first to be validated across multiple ethnic groups living in the United States.
Gene variant predicts medication response in patients with alcohol dependence
Patients with a certain gene variant drank less and experienced better overall clinical outcomes than patients without the variant while taking the medication naltrexone, according to an analysis of participants in the National Institutes of Health's 2001-2004 COMBINE (Combined Pharmacotherapies and Behavioral Interventions for Alcohol Dependence) Study.

News discussion:

Medicine & Health news