Breaking News
December 13, 2018 - Paternal grandfather’s access to food associated with grandson’s mortality risk
December 13, 2018 - Our brain senses angry voices in a flash, study shows
December 13, 2018 - PM2.5 Exposure Linked to Asthma Rescue Medication Use
December 13, 2018 - Can’t exercise? A hot bath may help improve inflammation, metabolism, study suggests
December 13, 2018 - Can artificial intelligence help doctors with the human side of medicine?
December 13, 2018 - Virginia Tech and UC San Diego researchers team up to develop nonopioid drug for chronic pain
December 13, 2018 - NIH offers support for HIV care and prevention research in the southern United States
December 12, 2018 - Activating brain region could revive the urge to socialize among opioid addicts
December 12, 2018 - Relationship impairment appears to interfere with seeking mental health treatment in men
December 12, 2018 - Sleep, Don’t Cram, Before Finals for Better Grades
December 12, 2018 - Effective treatments for urticarial vasculitis
December 12, 2018 - Gun violence is a public health issue: One physician’s story
December 12, 2018 - The Science of Healthy Aging
December 12, 2018 - Yes to yoghurt and cheese: New improved Mediterranean diet
December 12, 2018 - Researchers uncover a number of previously unknown insecticide resistance mechanisms
December 12, 2018 - Regulating the immune system’s ‘regulator’
December 12, 2018 - In breaking bad news, the comfort of silence
December 12, 2018 - Study finds upward link between alcohol consumption and physical activity in college students
December 12, 2018 - FDA issues warning letter to Zhejiang Huahai Pharmaceutical involved in valsartan recall
December 12, 2018 - Presence of antiphospholipid antibodies tied to first-time MI
December 12, 2018 - DNA analysis finds that stethoscopes are teaming with bacteria
December 12, 2018 - New study could help inform research on preventing falls
December 12, 2018 - Women and men with heart attack symptoms receive different care from EMS
December 12, 2018 - Disrupted biological clock can contribute to onset of diseases, USC study shows
December 12, 2018 - New publications generate controversy over the value of reducing salt consumption in populations
December 12, 2018 - New data from TAILORx trial confirms lack of chemo benefit regardless of race or ethnicity
December 12, 2018 - Specific class of biomarkers can accurately indicate the severity of cancer
December 12, 2018 - Meds Taken Do Not Vary With ADL Impairment in Heart Failure
December 12, 2018 - Long-term study shows that HIV-2 is deadlier than previously thought
December 12, 2018 - People living near oil and gas wells show early signs of cardiovascular disease
December 12, 2018 - IONTAS founder and pioneer in phage display technology attends Nobel Prize Award Ceremony
December 12, 2018 - People who eat red meat have high levels of chemical associated with heart disease, study finds
December 12, 2018 - New method uses water molecules to unlock neurons’ secrets
December 12, 2018 - Genetics study offers hope for new acne treatment
December 12, 2018 - New computer model predicts prostate cancer progression
December 12, 2018 - Nobel Laureates lecture about immune checkpoint therapy for cancer treatment
December 12, 2018 - More Illnesses From Tainted Romaine Lettuce Reported
December 12, 2018 - Aspirin could reduce HIV infections in women
December 12, 2018 - The EORTC Brain Tumor Group and Protagen AG collaborate to study immuno-competence of long-term glioblastoma survivors
December 12, 2018 - Insights into magnetotactic bacteria could guide development of biological nanorobots
December 12, 2018 - Sacrificial immune cells alert body to infection
December 12, 2018 - Low-salt diet may be more beneficial for females than males
December 12, 2018 - Major soil organic matter compound battles chronic wasting disease
December 12, 2018 - Findings may open up new ways to treat dwarfism and other ER-stress-related conditions
December 12, 2018 - New computational model provides clearer picture of shape-changing cells’ structure and mechanics
December 12, 2018 - 10 Facts on Patient Safety
December 12, 2018 - Poorest dying nearly 10 years younger than the rich in ‘deeply worrying’ trend for UK
December 12, 2018 - Innovative care model for children with ASD reduces use of behavioral drugs in ED
December 12, 2018 - Spending time in and around Hong Kong’s waters linked to better health and wellbeing
December 12, 2018 - Simple measures to prevent weight gain over Christmas
December 12, 2018 - Research advances offer hope for patient-tailored AML treatment
December 12, 2018 - Researchers discover a ‘blind spot’ in atomic force microscopy
December 12, 2018 - Sprayable gel could help prevent recurrences of cancer after surgery
December 12, 2018 - SLU researchers explore how fetal exposure to inflammation can alter immunity in newborns
December 12, 2018 - How do patients want to discuss symptoms with clinicians?
December 12, 2018 - Zinc chelation may be able to deliver drug to insulin-producing cells
December 12, 2018 - Brigham researchers develop automated, low-cost tool to predict a woman’s ovulation
December 12, 2018 - Some people with Type 2 diabetes may be testing their blood sugar more often than needed
December 12, 2018 - Slow-growing type of glioma may be vulnerable to immunotherapy, suggests study
December 12, 2018 - Study provides new information regarding microRNA function in cellular homeostasis of zebrafish
December 12, 2018 - Study provides new understanding of mysterious ‘hereditary swelling’
December 12, 2018 - Researchers shed new light on how to combat Shiga and ricin toxins
December 12, 2018 - Pregnant Women Commonly Refuse Vaccines
December 12, 2018 - Drug treatment could offer new hope for some patients with brain bleeding
December 12, 2018 - Health care financial burden of animal-related injuries is growing, study says
December 12, 2018 - Macrophage cells could help repair the heart following a heart attack, study finds
December 12, 2018 - Researchers develop new system for efficiently producing human norovirus
December 12, 2018 - New artificial intelligence-based system to differentiate between different types of cancer cells
December 11, 2018 - Brazilian professors propose guidelines for therapeutic use of melatonin
December 11, 2018 - Healthy Lifestyle Lowers Odds of Breast Cancer’s Return
December 11, 2018 - New research identifies two genes linked to serious congenital heart condition
December 11, 2018 - NIH Director talks science, STEM careers with preteens
December 11, 2018 - Disabling a Cellular Antivirus System Could Improve Gene Therapy
December 11, 2018 - New tool swiftly provides accurate measure of patients’ cognitive difficulties
December 11, 2018 - NICE releases new guidelines for diagnosis and management of COPD
December 11, 2018 - Without Obamacare penalty, think it’ll be nice to drop your plan? Better think twice
December 11, 2018 - Researchers capture high-resolution X-ray and NMR image of key immune regulator
December 11, 2018 - Natural flavonoid is effective at treating leishmanisis infections, study shows
December 11, 2018 - Avoidant grievers unconsciously monitor and block mind-wandering contents, study shows
December 11, 2018 - Study identifies how hantaviruses infect lung cells
Inexpensive testing spurs cancer patients’ relatives to assess own disease risk | News Center

Inexpensive testing spurs cancer patients’ relatives to assess own disease risk | News Center

image_pdfDownload PDFimage_print

An online initiative offering low-cost genetic testing to relatives of people with genetic mutations that increase their risk of cancer encourages the “cascade” testing that can help to identify healthy people at risk of the disease, according to a new study by researchers at the Stanford University School of Medicine and Color, a health services company that provides genetic testing.

The study of more than 700 people bearing one of 30 cancer-associated mutations found that nearly half of a patient’s first-degree relatives (think mother, father, siblings and children) chose to undergo testing when contacted by a genetic testing laboratory and offered a chance to have their own genes sequenced for about $50 — about one-tenth the standard cost. Furthermore, about 12 percent of those found to have the same mutation as the original patient then went on to invite additional relatives to be tested.

Although not everyone with a cancer-associated mutation will go on to develop the disease, the knowledge that one is a carrier can help people and their doctors make informed health care decisions while they are still healthy. For example, women with BRCA1 or BRCA2 mutations who have a vastly increased risk of developing breast or ovarian cancers may choose to undergo prophylactic mastectomies or have their ovaries removed. Other types of mutations, such as those that increase one’s risk of colon cancer, may indicate the need for increased or more frequent screening.

“We’ve found that this approach has been remarkably successful in overcoming traditional barriers to reaching and testing a patient’s relatives,” said Allison Kurian, MD, associate professor of medicine and of health research and policy at Stanford. “The results have been very striking, as traditional approaches to cascade testing result in only about 30 percent of relatives undergoing testing.”

Kurian shares senior authorship of the research, which was published Sept. 18 in the Journal of the National Cancer Institute, with Alicia Zhou, PhD, who is head of research at Color, based in Burlingame, California. Jennifer Caswell-Jin, MD, instructor of medicine at Stanford, and Anjali Zimmer, PhD, a technical writer from Color, are the lead authors of the study.

Growing interest in genetic tests

Increasingly, newly diagnosed cancer patients are turning to genetic testing in a quest to understand why they’ve developed the disease. The discovery of a disease-associated mutation can help drive treatment decisions and provide clues as to the cancer’s origin. But there’s another important, often overlooked, benefit: The test results can help a patient’s healthy first-degree relatives assess their own genetic risk for cancer. About 50 percent of these relatives could be expected to harbor the same mutation as the patient, even if they haven’t developed cancers themselves.

However, this kind of cascade testing, in which a positive result in a cancer patient triggers waves of genetic testing among the patient’s relatives, remains relatively rare — in part because physicians are often prohibited from directly contacting a patient’s relatives, and people reeling from their own recent diagnosis may not immediately consider the health implications for their loved ones. Testing can also be expensive and is not always covered by insurance.

Because about half of a patient’s first-degree relatives are also likely carriers of the same mutation, cascade testing has significant public health implications for early cancer detection and even prevention.

Kurian and her colleagues wondered if there was an easier way to reach potential carriers. They evaluated the first year of a family testing program in which people found to harbor one of 30 cancer-associated genes were encouraged to provide the testing laboratory with email addresses for their first-degree relatives. The laboratory then contacted the relatives to provide more information via a web portal and invite them to be tested for an out-of-pocket cost of $50.

“One unique thing about this study is that it isn’t focused on any single gene,” Caswell-Jin said. “These participants were carriers of mutations in any of 30 different genes, some of which are very strongly associated with the development of specific cancers. Because about half of a patient’s first-degree relatives are also likely carriers of the same mutation, cascade testing has significant public health implications for early cancer detection and even prevention.”

To conduct the study, the researchers invited carriers of one of 30 cancer-associated mutations, identified by any one of several certified genetic testing laboratories, and their relatives to participate in the family testing program. They reached possible participants through the use of online advertising, notices in physicians’ clinics or at group meetings for families with hereditary cancers.

From September 2016 to September 2017, 1,101 people — 741 people who carried the mutation themselves, and 360 relatives of the carriers — opted to participate in the program. Together, the original participants then invited 2,280 of their relatives to also be tested. Nearly half of those invited underwent testing themselves within the study’s follow-up period.

As expected, about one-half of the tested relatives were also carriers. About 12 percent of these people then used the family testing program to invite additional first-degree relatives to be tested.

“Although this was potentially lower than we might have expected, in many cases it was due to the fact that there were no more first-degree relatives in the family to test,” Caswell-Jin said.

Different mutations identified

Surprisingly, the researchers found that about 5 percent of relatives tested carried cancer-associated mutations that differed from those of their patient relatives.

“These pathogenic mutations were totally unexpected and suggest that this may reflect the prevalence in the general population of known cancer-associated mutations,” Kurian said. “It addresses a long-standing question in the field about what we might find if we routinely tested everyone.”

The researchers emphasize that, regardless of how people are contacted to be tested, it is important to involve a genetic counselor to interpret test results and direct mutation carriers to appropriate health care services.

“This is such an exciting era,” Caswell-Jin said. “We expect the proportion of people undergoing genetic testing for disease-associated mutations will continue to increase. We need to make sure they get the support they need to understand their results, and to encourage additional support and follow-up.”         

“We are very engaged in learning how to most effectively implement genetic testing, particularly in a broad population,” Kurian said. “We are eager to pursue this finding further and to understand how we can improve on this new model of cascade testing.”

Another Stanford author of the study is senior genetic counselor Kerry Kingham. Kurian is a member of the Stanford Cancer Institute.

The research was supported by the BRCA Foundation, the Damon Runyon Cancer Research Foundation and Color.

Kurian has received research funding from Myriad Genetics for an unrelated project.

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

Tagged with:

About author

Related Articles