Breaking News
August 17, 2018 - Study shows DNA methylation related to liver disease among obese patients
August 17, 2018 - Life on the border: Back at Stanford, ready to pitch in
August 17, 2018 - New device for accurately placing hemodialysis catheters on kidney patients
August 17, 2018 - New strategy accelerates, automates process of prototype molecule optimization
August 17, 2018 - Study finds role of autoimmunity in development of COPD
August 17, 2018 - Researchers transform research tool to study neuronal function
August 17, 2018 - Cognitive impairment does not equate to unhappiness in older adults
August 17, 2018 - Peer Comparisons Can Decrease Risky Prescribing Patterns
August 17, 2018 - Susceptible genes identified for childhood chronic kidney disease
August 17, 2018 - Research uncovers miscarriage cause, identifies potential targets for treatment
August 17, 2018 - Bacterial armor could be new target for antibiotics | News Center
August 17, 2018 - FDA expands approval of Vertex’ cystic fibrosis medicine to treat children aged 12 to
August 17, 2018 - Give Your Child a Head Start With Math
August 17, 2018 - Ground-breaking study tests whether rejected livers can be made viable for transplantation
August 16, 2018 - New algorithm could improve diagnosis of rare diseases | News Center
August 16, 2018 - SCHILLER introduces latest generation of ECG device, CARDIOVIT AT-102 G2
August 16, 2018 - Proper treatment, refraining from smoking can reduce heart disease risk from type 2 diabetes
August 16, 2018 - Mount Sinai study could transform treatment for patients with retinal degenerative diseases
August 16, 2018 - Penn researchers develop first mouse model of idiopathic pulmonary fibrosis
August 16, 2018 - Four tips to help prevent fall allergy symptoms
August 16, 2018 - Women’s Preventive Services Initiative says screen all women annually for urinary incontinence
August 16, 2018 - At Stanford, patient discovers the source of her headaches, nausea | News Center
August 16, 2018 - To Prevent Injuries in Young Baseball Players, Chris Ahmad Reaches Out to Parents
August 16, 2018 - Restoring blood flow may be linked to longer survival in patients with critical limb ischemia
August 16, 2018 - New model of genetically engineered immune cells may help fight solid tumors
August 16, 2018 - Maternal stress increases anxious and depressive-like behaviors in female offspring
August 16, 2018 - Childhood exposure to secondhand smoke increases risk of COPD death in adulthood
August 16, 2018 - Scientists uncover key control mechanism of DNA replication
August 16, 2018 - NIH begins first-in-human trial of experimental live, attenuated Zika virus vaccine
August 16, 2018 - Two diabetes medications don’t slow progression of type 2 diabetes in youth
August 16, 2018 - 5 Questions: How Stanford research is making MRI scans safer for kids | News Center
August 16, 2018 - Columbia Celebrates 25th Anniversary of White Coat Ceremony
August 16, 2018 - Phonak’s new smallest and most discreet Virto B-Titanium hearing aid
August 16, 2018 - New project aims to study growth of water-based microorganisms
August 16, 2018 - Immune cell found to play important role in photosensitivity
August 16, 2018 - Higher social dominance linked to faster decision-making in men
August 16, 2018 - Blood test in early pregnancy could determine a woman’s later risk for gestational diabetes
August 16, 2018 - New research confirms link between DDT exposure and autism
August 16, 2018 - Neurodevelopmental Anomalies, Birth Defects Linked to Zika ID’d
August 16, 2018 - Risk of heart failure up in ALVSD patients with diabetes
August 16, 2018 - Exercise reduces symptoms and fatigue in patients with chronic kidney disease
August 16, 2018 - Study reveals role of RUNX proteins in DNA repair
August 16, 2018 - New research finds no harm from average salt consumption
August 16, 2018 - Researchers develop new way of testing bacterial resistance to antibiotics
August 16, 2018 - Magnetic gene in aquarium fish could open doors to treatment for epilepsy, Parkinson’s
August 16, 2018 - Five tips for successful long-term breastfeeding
August 16, 2018 - Researchers identify brain networks involved in object naming
August 16, 2018 - Promoting HPV Vaccine Doesn’t Prompt Risky Sex by Teens: Study
August 16, 2018 - Treating Rheumatoid Arthritis: Search for a Cure
August 16, 2018 - Research shows in the long run, charcoal toothpaste likely won’t whiten teeth
August 16, 2018 - Seattle Children’s opens new clinic to provide convenient access to pediatric specialty care services
August 16, 2018 - Curious case of the lost contact lens
August 16, 2018 - GN Hearing unveils world’s first Premium-Plus hearing aid
August 16, 2018 - Parental life span linked with increased longevity and health in daughters
August 16, 2018 - Health leaders reveal ten most important medicines in NHS history
August 16, 2018 - Mobile health devices diagnose hidden heart condition in at-risk populations
August 16, 2018 - When it comes to shedding pounds, it pays to think big
August 16, 2018 - Liva Healthcare announces appointment of Thomas Cooke as clinical services manager in the UK
August 16, 2018 - New digital pharmacy aims to help people living with chronic care conditions
August 16, 2018 - Preventing ACL injuries in high school athletes
August 16, 2018 - Experts provide insight into novel concepts and approaches for stroke rehabilitation
August 16, 2018 - Scientists reverse congenital blindness in mouse model
August 16, 2018 - Study shows link between use of benzodiazepines and increased risk of Alzheimer’s disease
August 16, 2018 - Study provides new insight into how ‘trash bag of the cell’ traps and seals off waste
August 16, 2018 - Trial shows PARP inhibitor as novel treatment option for patients with advanced breast cancers
August 16, 2018 - Prenatal exposure to violence increases toddlers’ aggressive behavior to their mothers
August 16, 2018 - Can manipulating gut microbes improve cardiac function in patients with heart failure?
August 16, 2018 - Hearts of newborn piglets can completely heal after heart attacks
August 16, 2018 - Ablating the mutant p53 gene in mice with colorectal cancer inhibits tumor growth
August 16, 2018 - Higher BMI in people with prediabetes related to evening preference and lack of sufficient sleep
August 16, 2018 - Using peripheral nerve blocks to treat facial pain may produce long-term pain relief
August 16, 2018 - Neural stem cells are the key to tail regeneration
August 16, 2018 - Study compares genetic and neural contributions to ADHD in children with or without TBI
August 16, 2018 - Adding energy drinks to alcohol may exacerbate negative effects of binge drinking
August 16, 2018 - Eye Examination Can Help Detect Abuse in Children
August 16, 2018 - Know the Difference: Rheumatoid Arthritis or Osteoarthritis?
August 16, 2018 - From ‘sea of mutations,’ two possible cancer links rise to the surface
August 16, 2018 - Does medical school take too long?
August 16, 2018 - Brown University researchers reveal key physical properties of ‘giant’ cancer cells
August 16, 2018 - Regular resistance training improves exercise motivation
Multigene testing replacing BRCA tests for breast cancer risk | News Center

Multigene testing replacing BRCA tests for breast cancer risk | News Center

image_pdfDownload PDFimage_print

The use of genetic tests aimed at detecting the presence of mutations in the BRCA1 and BRCA2 genes in women with breast cancer is rapidly declining in favor of tests that can detect multiple cancer-associated mutations, according to researchers at the Stanford University School of Medicine and five other U.S. medical centers.

Some researchers had wondered whether multigene testing, which may identify genetic mutations of uncertain clinical significance, would lead more women to consider prophylactic mastectomies — a surgery in which both breasts are removed to prevent future cancers — out of an abundance of caution. However, the current study did not show an increase in mastectomies associated with testing more genes.  

The shift reflects a growing acknowledgement by clinicians that multigene panel tests can yield more clinically useful information for patients and their unaffected relatives, the researchers said.

Overall, multigene panels were about twice as likely as the tests for BRCA1 and BRCA2 to identify disease-associated genetic variants, the study found. However, multigene testing was more likely than the BRCA-only testing to be delayed until after surgery to remove the tumor. This time lag may limit a patient’s treatment options, the researchers said.

‘Becoming the norm’

“In general, multigene panel tests yield more clinically useful results and are rapidly becoming the norm,” said Allison Kurian, MD, associate professor of medicine and of health research and policy at Stanford. “Newly diagnosed women should ask their doctors whether they may be appropriate candidates for genetic testing. They should also advocate for the opportunity to discuss genetic testing and its implications with an experienced clinician, such as a genetic counselor, in a timely manner.”

A paper describing the research will be published May 10 in JAMA Oncology. Kurian is the lead author. Steven Katz, MD, MPH, professor of medicine and of health management and policy at the University of Michigan, is the senior author.

In general, multigene panel tests yield more clinically useful results and are rapidly becoming the norm.

Multigene panel tests are more likely than BRCA-only tests to yield information about both a patient and her family members, who may be unwitting carriers of disease-associated mutations. “This is very important because it offers the opportunity for genetically targeted, primary cancer prevention in unaffected relatives,” said Kurian, who is a member of the Stanford Cancer Institute. “Some prior research has shown that this ‘cascade testing’ of unaffected relatives is cost-effective, and there are currently several initiatives underway to improve upon the delivery and success rates of cascade testing.”

The researchers surveyed over 5,000 women who had been diagnosed with stage-0 to stage-2 breast cancer between 2013 and 2015. They asked the women if they’d had genetic testing, and, if so, who ordered it, when it was performed and what type of tests they underwent. A novel feature of this study was that genetic results came directly from the testing laboratories and were linked to population-based cancer registry data. This data linkage provided substantially greater depth and accuracy of genetic information than in previous studies.

They found that only about one-quarter of the women had received any genetic testing. This number stayed relatively constant throughout the two-year period. However, of those who were tested, the proportion who received multigene panel testing increased steadily over time, from about 26 percent of those tested in early 2013 to about 66 percent in mid-2015. Conversely, the proportion of women who received BRCA-only testing during the same time period decreased from about 74 percent to about 34 percent.

Multigene panel testing was about twice as likely as BRCA-only testing to identify disease-associated mutations. But it was also more likely to reveal mutations of uncertain clinical significance, particularly in racial or ethnic minorities. This disparity is likely due to the fact that most genes were sequenced first in white patients, and the causative effect of variations in other minorities is not clear. This finding emphasizes the need for research in diverse populations to clarify genetic uncertainty and reduce racial disparities in the clarity of genetic test results, the researchers say.

Timing of tests varied

The timing of the tests also varied, the study found. Although the majority of the women tested got their results prior to surgery to remove the tumor, many did not. About 33 percent of women receiving multigene panel testing were tested after surgery, versus about 20 percent of women receiving BRCA-only testing — perhaps due to a recognition by clinicians that interpreting the results of a multigene panel can be complex and requires the expertise of genetic counselors, who are not always rapidly available.

“Furthermore, patients and their clinicians may view genetic testing as a lower priority than tumor biology and pathology testing which most directly inform the treatment options,”  said Katz.

“As genetic testing has become more comprehensive and less expensive, we have begun to see a significant problem in terms of the genetic-counselor workforce,” Kurian said. “More genetic counselors are needed, and they should be integrated into routine cancer care. There is also a need for new care-delivery models that effectively triage appropriate patients to timely genetic counseling.”

Researchers from the University of Southern California, Emory University and the Memorial Sloan-Kettering Cancer Center also contributed to the study.

The research was supported by the National Institutes of Health (grant P01CA163233), the National Cancer Institute and the University of Michigan Cancer Center.

Stanford’s departments of Medicine and of Health Research and Policy also supported the work.

Tagged with:

About author

Related Articles