Breaking News
October 18, 2018 - Dietary fiber reduces brain inflammation during aging
October 18, 2018 - New tool could help prioritize recovery efforts for the poorest hit by natural disasters
October 18, 2018 - Hundreds of dietary supplements shown to contain unapproved drugs
October 18, 2018 - Active Pharmaceuticals ID’d in >700 Dietary Supplements
October 18, 2018 - Cell death protein also damps inflammation
October 18, 2018 - Health Highlights: Oct. 15, 2018
October 18, 2018 - Largest study of ‘post-treatment controllers’ reveals clues about HIV remission
October 18, 2018 - Bad Blood in Silicon Valley: A conversation with John Carreyrou
October 18, 2018 - ANTRUK’s Annual Lecture sends out message on shortage of funds for antibiotic research
October 18, 2018 - NAM special publication outlines steps to ensure interoperability of health care systems
October 18, 2018 - Novel method uses just a drop of blood to monitor effect of lung cancer therapy
October 18, 2018 - New blood test could spare cancer patients from unnecessary chemotherapy
October 18, 2018 - Training young researchers to work with data volumes arising in the health sector
October 18, 2018 - New Metrohm IC method is reliable and convenient to use for zinc oxide assay
October 18, 2018 - Global AIDS, TB fight needs more money: health fund
October 18, 2018 - Understanding the forces that cause sports concussions
October 18, 2018 - Research points to new target for treating periodontitis
October 18, 2018 - New tool improves assessment of postpartum depression symptoms
October 18, 2018 - From Biopsy to Diagnosis
October 18, 2018 - Sexual harassment and assault linked to worse physical/mental health among midlife women
October 18, 2018 - Stumped by medical school? A Q&A with a learning specialist
October 18, 2018 - Targeting immune checkpoints in microglia could reduce out-of-control neuroinflammation
October 18, 2018 - Study finds changes in antiepileptic drug metabolism during different trimesters of pregnancy
October 18, 2018 - Autonomic nervous system directly controls stem cell proliferation, study shows
October 18, 2018 - FDA Approves Talzenna (talazoparib) for gBRCAm HER2-Negative Locally Advanced or Metastatic Breast Cancer
October 18, 2018 - Sleeping Beauty technique helps identify genes responsible for NAFLD-associated liver cancer
October 18, 2018 - Many U.S. adults confused about primary care, study shows
October 18, 2018 - UC researcher focuses on light-mediated therapies to target breast cancer
October 18, 2018 - With philanthropic gifts, Stanford poised to make major advances in neurosciences | News Center
October 18, 2018 - Mice study shows antibiotics are not always necessary to cure sepsis
October 18, 2018 - Researchers discover why heart contractions are weaker in individuals with HCM
October 18, 2018 - Participation in organized sport during childhood may have long-term skeletal benefits
October 18, 2018 - Probiotic/antibiotic combination could eradicate drug-resistant bacteria
October 17, 2018 - More Socioeconomic Challenges for Hispanic Women With HIV
October 17, 2018 - 49,XXXXY syndrome – Genetics Home Reference
October 17, 2018 - Scientists uncover possible new causes of Tourette syndrome
October 17, 2018 - Girl undergoes unusual heart surgery after compassionate-use exemption | News Center
October 17, 2018 - Health Issues That Are Sometimes Mistaken for Gluten Sensitivity
October 17, 2018 - Elective induction of labor at 39 weeks may be beneficial option for women and their babies
October 17, 2018 - New smart watch algorithms can accurately monitor wearers’ sleep patterns
October 17, 2018 - Researchers demonstrate epigenetic memory transmission via sperm
October 17, 2018 - FDA, DHS announce memorandum of agreement to address cybersecurity in medical devices
October 17, 2018 - Health Tip: Know the Risks of Chicken Pox
October 17, 2018 - Immunotherapy effective against hereditary melanoma
October 17, 2018 - Researchers reveal new mechanism for how animal cells stay intact | News Center
October 17, 2018 - Alzheimer's Goes Under the Cryo-Electron Microscope
October 17, 2018 - Medicare for all? CMS chief warns program has enough problems already
October 17, 2018 - Metrohm Raman introduces Mira P handheld Raman system
October 17, 2018 - Expanding the knowledge about hippocampus to better understand cognitive deficits in MS
October 17, 2018 - Study of Nigerian breast cancer patients reveals prevalence of aggressive molecular features
October 17, 2018 - Many healthy children may have metabolic risk factors, finds study
October 17, 2018 - A new antibiotic could be a better, faster treatment for tuberculosis
October 17, 2018 - “I will not become a Robot Doctor”: A medical student vows to practice compassion
October 17, 2018 - Study findings may explain sporadic outbreaks of C. difficile infections in hospitals
October 17, 2018 - Purdue researchers develop new chemical process to find better drug ‘fits’ for patients
October 17, 2018 - Yale researchers develop way to attack RNA with small-molecule drugs
October 17, 2018 - New pragmatic study launched to understand the effectiveness of new type 2 diabetes drug
October 17, 2018 - Alnylam Announces Plan to Initiate Rolling Submission of a New Drug Application and Pursue Full Approval for Givosiran
October 17, 2018 - Nine cases of polio-like illness suspected in children in illinois
October 17, 2018 - Eisai enters into agreement with Eurofarma for development and sales of lorcaserin in 17 countries
October 17, 2018 - Patients once thought incurable can benefit from high-dose radiation therapy
October 17, 2018 - Researchers awarded grant to advance testing of experimental heroin vaccine
October 17, 2018 - Researchers examine SSRI use during pregnancy and major gestational malformations
October 17, 2018 - FDA grants Rare Pediatric Disease Designation for Immusoft’s Iduronicrin genleukocel-T
October 17, 2018 - Reliable Respiratory announces acquisition of Attleboro Area Medical Equipment
October 17, 2018 - Study reveals link between childhood abuse and higher arthritis risk in adulthood
October 17, 2018 - Research shows people over 65 are not performing enough physical activity
October 17, 2018 - FDA Approves Liletta (levonorgestrel-releasing intrauterine system) 52 mg to Prevent Pregnancy for up to Five Years
October 17, 2018 - Weight gain after smoking cessation linked to increased short-term diabetes risk
October 17, 2018 - Researchers find opportunity to control salt-sensitive hypertension without exercising
October 17, 2018 - Women not warned about cancer associated with breast implants
October 17, 2018 - Metrohm offers robust handheld Raman analyzer for Defense and Security
October 17, 2018 - Modeling Non-Numerical Data in Systems Biology
October 17, 2018 - Research aims to address health disparities in African-American men
October 17, 2018 - Human and cattle decoys trap outdoor-biting mosquitoes in malaria endemic regions
October 17, 2018 - High Circulating Prolactin Level Inversely Linked to T2DM Risk
October 17, 2018 - Study finds gene variant predisposes people to both Type 2 diabetes and low body weight
October 17, 2018 - Metrohm software products make it easy to comply with ALOCA and ALCOA+ guidelines
October 17, 2018 - Network of doctors identify the cause of 31 new conditions
October 17, 2018 - Notable improvement in brain cancer survival among younger patients but not much for elderly
Inaccurate direct-to-consumer raw genetic data can harm patients, new research suggests

Inaccurate direct-to-consumer raw genetic data can harm patients, new research suggests

image_pdfDownload PDFimage_print

Whether or not you’ve ever had genetic testing, you probably know someone that has. Millions of people each year have their DNA analyzed by companies like 23andMe and Ancestry.com, seeking out personalized information about their heritage, health and other traits.

“The general public is excited about genetics because it can tell us a lot about our past ancestry and, if the right technology is used, about our future­­ ­— such as the likelihood of developing certain health problems,” said Tia Moscarello, a genetic counselor with Stanford’s Center for Inherited Cardiovascular Disease. “These tests are popular for good reason: many people want to be proactive about their health without spending a lot of money or making a trip to the doctor’s office to do it.”

Typically, these direct-to-consumer (DTC) genetic tests are less expensive than more comprehensive, clinical-grade genetic tests obtained through a health care provider.

However, the Food and Drug Administration limits what these companies can say about a consumer’s health. So many people download their raw genetic data obtained from the company, and then upload it to another company’s website for additional interpretation. But their raw data come with a disclaimer stating the information is not validated for accuracy nor intended for medical use.

“To our understanding, raw genetic data doesn’t go through quality control. We and the DTC labs know that raw data may not be accurate,” Moscarello said. For instance, a small study recently showed that 40 percent of genetic variants identified in direct-to-consumer raw data and sent for clinical confirmation were false positives — meaning that the genetic variants weren’t really present.

Moscarello has personally witnessed the impact of these false positives on patients and their families. In a recent commentary in Genetics in Medicine, she and her colleagues describe two cases of false positives seen at Stanford and two more seen at other institutions. These patients received raw data with genetic variants known to be associated with inherited heart conditions that would predispose them to sudden death, she said. Fortunately, a clinical lab determined that the results were incorrect.

Moscarello said she and her co-authors wrote the commentary to call attention to the potential harms of direct-to-consumer raw data interpretation, which extend beyond the potential for inaccurate results. She explained:

Finding out that you or a family member are at risk for an inherited heart condition can be a very emotional, life-changing event. To go through that without an expert to talk to, or perhaps without support systems nearby, was challenging for our patients. They had to wait for an appointment with a genetic counselor who could explain the test and its limitations, and to provide support. That is usually provided prior to genetic testing, so patients can decide if they would like to proceed.

The commentary also discussed the impact that DTC testing is having on the health care system. For the four cases, this burden included the time and expense of four clinical-grade genetic tests, several echocardiograms and electrocardiograms for each patient, multiple visits with physician specialists, an MRI, and the implant and subsequent removal of a cardioverter defibrillator, Moscarello said.

So what can be done? The authors call for more research to determine the frequency and impact of people being affected by false positives in their raw genetic data interpretations. When a result with potential clinical significance is found, they recommend that it be sent for confirmation to a clinical-grade lab. This should occur before the consumer has to undergo costly clinical evaluations and tests, she said, concluding:

It is clear that DTC genetic testing is here to stay, and for good reason. So it’s important to focus on maximizing the benefits of such large-scale, clinician-free testing, while minimizing the harms to consumers.

Collaboration between clinicians, consumers and the DTC genetic testing companies is a priority. I hope that DTC genetic testing companies will work with clinical genetics experts to create educational resources — so that consumers and non-specialist physicians know the data may be inaccurate, and what to do next if something is found.

Image by Clker-Free-Vector-Images

Tagged with:

About author

Related Articles