Breaking News
December 19, 2018 - New $1.6 million NIH grant supports study on a gene vital to circadian rhythms
December 19, 2018 - Racial Disparities Seen Among Teens Undergoing Flu Vaccination
December 19, 2018 - To resolve inflammation, location matters
December 19, 2018 - Research identifies new therapeutic target for cancer treatment and tissue regeneration
December 19, 2018 - Energy costs, social isolation contribute to health risk of older adults in extreme weather
December 19, 2018 - Potential combination therapy against rare disease of the bone marrow could improve treatment
December 19, 2018 - Researchers aim to improve cognition, reverse weight gain in schizophrenia
December 19, 2018 - UC San Diego Health offers new DRG stimulation device for phantom limb pain
December 19, 2018 - Study examines relationship between growth restriction and risk of childhood mortality
December 19, 2018 - New study provides insights on increased risk of suicide in young patients visiting ED
December 19, 2018 - AHA: Thyroid Problems Linked to Worsening Heart Failure
December 19, 2018 - World-first coeliac disease vaccine enters Phase 2 trials
December 19, 2018 - RNA sequencing offers novel insights into the microbiome
December 19, 2018 - A promising, effective vaccine for common respiratory disease
December 19, 2018 - Protein may slow progression of emphysema, study finds
December 19, 2018 - Studying atrial fibrillation — and exploring new frontiers in precision health
December 19, 2018 - A New Way To Get College Students Through A Psychiatric Crisis — And Back To School
December 19, 2018 - Optum, UnitedHealthcare take action to help people affected by North Carolina winter storms
December 18, 2018 - Weight change in middle-aged, elderly Chinese Singaporeans related to increased risk of death
December 18, 2018 - Immune cells sacrifice themselves to protect us from invading bacteria
December 18, 2018 - Watching brain cells fire, with a twist of gravitational waves
December 18, 2018 - 2018 in Review
December 18, 2018 - Getting the Most Out of the CLARITY Technique
December 18, 2018 - NVF shoes provide a viable option for track and road racing
December 18, 2018 - CRISPR may restore effectiveness of chemotherapies used to treat lung cancer
December 18, 2018 - New app accurately measures and charts progression of skin wounds
December 18, 2018 - Persistent Discrimination ID’d Among Physician Mothers
December 18, 2018 - Cellphone technology developed to detect HIV
December 18, 2018 - A Stanford doctor hits the field with the 49ers — as their airway management physician
December 18, 2018 - The Rise of Anxiety Baking
December 18, 2018 - Just one night of sleep deprivation increases the urge to eat
December 18, 2018 - Study reveals mechanism behind failed remyelination in MS
December 18, 2018 - New genetic testing method increases the precision of biomarker analysis
December 18, 2018 - Simple technique to effectively treat underdiagnosed cause of debilitating chest pain
December 18, 2018 - Barbershop-based medical intervention can successfully lower blood pressure, new data shows
December 18, 2018 - Food labels have caused changes in consumers’ intake and industry’s use of key additives
December 18, 2018 - Sickest children could benefit from split liver transplants
December 18, 2018 - Scientists create patient-specific model to identify most effective treatment for appendix cancer
December 18, 2018 - ‘Little Foot’ endocast reveals a small brain combining ape-like and human-like features
December 18, 2018 - New therapy for childhood blindness shows ‘very promising’ results
December 18, 2018 - Researchers discover promising new compound against Buruli ulcer
December 18, 2018 - Study finds significant use of traditional, complementary and alternative medicines in Sub-Saharan Africa
December 18, 2018 - California Farm Implicated in Outbreak of E. coli Tied to Romaine Lettuce
December 18, 2018 - Mobile health has power to transform HIV/AIDS nursing
December 18, 2018 - Celiac Vaccine in Clinical Trials at Columbia
December 18, 2018 - Research into mental health first aid prompts practical guidance and resources for workplace
December 18, 2018 - Researcher conducts study to investigate peripheral blood markers of Alzheimer’s disease
December 18, 2018 - Researchers identify link between mucus in the small airways and pulmonary fibrosis
December 18, 2018 - EU Commission’s Health Policy Platform to host EKHA program on transplantation
December 18, 2018 - Survivors of childhood Hodgkin lymphoma have high risk of developing solid tumors
December 18, 2018 - Small changes to cafeteria design can get kids to eat healthier, new assessment tool finds
December 18, 2018 - From Machines to Cyclic Compounds
December 18, 2018 - New study reveals best assessment tools to establish delirium severity
December 18, 2018 - Rice University scientists develop synthetic protein switches to control electron flow
December 18, 2018 - Home-based pulmonary function monitoring for teens with Duchenne muscular dystrophy
December 18, 2018 - Researchers identify potential target for new breast cancer treatments
December 18, 2018 - National Biofilms Innovation Centre award grant to Neem Biotech for novel anti-biofilm drug development
December 18, 2018 - Artificial intelligence and the future of medicine
December 18, 2018 - Montana State doctoral student receives grant for her work to improve neuroscience tool
December 18, 2018 - Early postpartum initiation of opioids associated with persistent use
December 18, 2018 - Russian scientists identify molecular ‘switch’ that could be target for treatment of allergic asthma
December 18, 2018 - Surgeons make more mistakes in the operating room during stressful moments, shows study
December 18, 2018 - Immune cells explode themselves to inform about the danger of invading bacteria
December 18, 2018 - Malnutrition in children with Crohn’s disease linked with increased risk of surgical complications
December 18, 2018 - FDA Approves Motegrity (prucalopride) for Adults with Chronic Idiopathic Constipation (CIC)
December 18, 2018 - The long and short of CDK12
December 18, 2018 - Hologic’s Cynosure division introduces TempSure Surgical RF technology in North America
December 18, 2018 - CMR Surgical partners with Nicholson Center to launch U.S.-based training program for Versius
December 18, 2018 - Findings reinforce guidelines for cautious use of antipsychotics in younger populations
December 18, 2018 - Study finds new strains of hepatitis C virus in sub-Saharan Africa
December 18, 2018 - New battery-free, implantable device aids weight loss
December 18, 2018 - Parental alcohol use disorder associated with offspring marital outcomes
December 18, 2018 - Novel Breast Imaging Technique Might Cut Unnecessary Biopsies
December 18, 2018 - What can a snowflake teach us about how cancer spreads in the body?
December 18, 2018 - Management of nausea and vomiting in pregnancy costs the NHS more than previously thought
December 18, 2018 - Green leafy vegetables may reduce risk of developing liver steatosis
December 18, 2018 - Veganism linked to nutrient deficiencies and malnutrition if not planned correctly
December 18, 2018 - Coming Soon: A Tiny Robot You Swallow to Help You Stay Healthy
December 18, 2018 - Modified malaria drug proven effective at inhibiting Ebola
December 18, 2018 - Study finds epigenetic differences in the brains of individuals with schizophrenia
At-home genetic testing leads to misinterpretations of results

At-home genetic testing leads to misinterpretations of results

image_pdfDownload PDFimage_print
3D illustration of a method of colored DNA sequencing. Two drops of water on the screen. Credit: iStock Photo

Home genetic tests like AncestryDNA and 23andMe are more popular than ever, with sales topping $99 million in 2017. But a new study led by a Boston University School of Public Health researcher highlights the potential negative implications of widespread access to personal genetic interpretation tools.

The study, published in Translational Behavioral Medicine, is the first to examine the challenges that may arise when consumers contact healthcare providers about their “raw” DNA interpretation results.

“People often enter the direct-to-consumer (DTC) market for recreational purposes, such as learning about their ancestry,” says lead author Catharine Wang, BU associate professor of community health sciences. “Yet what we started seeing was that these same individuals subsequently come across third-party interpretation services where they proceeded to learn more about their raw DNA made available by ancestry-testing companies.

“We were especially interested in the downstream implications of receiving unexpected disease risk information from these newer services that led consumers to seek out a genetic counselor’s consult,” Wang says.

With the introduction of ancestry genetic testing in 2000 and health risk testing in 2007, the public gained the option of bypassing traditional genetic service providers and accessing genetic information directly from commercial companies. A number of experts have since raised concerns about the marketing and clinical validity of DTC testing services, especially as third-party genetic interpretation services are not regulated by the US Food and Drug Administration.

The researchers surveyed 85 genetic counselors; more than half (53 percent) indicated that they had been contacted by patients following their use of third-party raw DNA interpretation services.

Participants reported a number of challenges when dealing with these patients, including their overemphasis on the validity of the DTC testing results and their resistance to the information subsequently provided by the counselors. Counselors described patients as overconfident in both their existing knowledge and their understandings of what the results meant, which led to challenges when the counselors countered patients’ expectations.

“Our results suggest that misunderstanding of genetic information conveyed on various DTC reports is relatively common and has potentially adverse implications both on the receptivity to the information conveyed by genetic counselors and the emotional responses by patients,” the authors wrote.

The authors argued that the results of the study highlight concerns over lack of oversight of the expanding public access to raw DNA data and called for more oversight over third-party DTC services.

“Study results may inform efforts to support patients and healthcare professionals in this context, to ensure appropriate monitoring of the quality of interpretation services and maximize effective translation of genome-based knowledge for population health,” they wrote.

“Given the extent to which personal genomic testing is now being aggressively marketed, with some companies even offering genome sequencing and corresponding ‘interpretation app du jour,’ we expect this area and its corresponding burden on the health system to grow significantly,” says Wang.

The research team also conducted a parallel study that examined consumers’ perspectives on online third-party raw DNA interpretation services.


Explore further:
Concerns surround use of direct-to-consumer genetic testing

More information:
Caitlin G Allen et al. The impact of raw DNA availability and corresponding online interpretation services: A mixed-methods study, Translational Behavioral Medicine (2018). DOI: 10.1093/tbm/ibx009

Journal reference:
Translational Behavioral Medicine

Provided by:
Boston University

Tagged with:

About author

Related Articles