Breaking News
June 19, 2018 - After addiction, the long road back to good health
June 19, 2018 - High blood pressure could be an early sign of dementia
June 19, 2018 - Innovative drugs and new European treatment guidelines refine, improve MS therapy
June 19, 2018 - BIDMC scientists develop new tool to benefit patients with HCV-associated liver failure
June 19, 2018 - Diabetes diagnosis may come with increased risk of pancreatic cancer for African-Americans, Latinos
June 19, 2018 - Personalized Goals, Cash Motivate Heart Patients to Exercise
June 19, 2018 - Nipah Virus (NiV) | CDC
June 19, 2018 - Genomics offers new treatment options for infants with range of soft tissue tumors
June 18, 2018 - Study shows how moderate consumption of alcohol can protect the heart
June 18, 2018 - Gene editing technology predicts heart disease risk
June 18, 2018 - Who Will and Who Won’t Get the Flu?
June 18, 2018 - Research shows effective responses to online feedback
June 18, 2018 - Scientists to focus on big data and genetics to identify risk factors for dementia
June 18, 2018 - Ultrasound-based technology for assessing overweight adolescents with liver disease
June 18, 2018 - Osteochondral knee defect treated using cell technology
June 18, 2018 - Study demonstrates increased levels of gum disease in people at risk of rheumatoid arthritis
June 18, 2018 - Ebola & Marburg | NIH: National Institute of Allergy and Infectious Diseases
June 18, 2018 - Brains, eyes, testes: off-limits for transplants?
June 18, 2018 - Drug used to treat myelofibrosis can awaken ‘dormant’ lymphomas in the bone marrow
June 18, 2018 - New study focuses on best, cost effective practices to bridge treatment gap for brain disorders
June 18, 2018 - New study highlights predictors that prevent from achieving remission in early RA
June 18, 2018 - Neuroscientists map feeling of cool touch to the brain’s insula in mouse model
June 18, 2018 - Study highlights potential use of blood biomarkers as diagnostic tool for sleep apnea
June 18, 2018 - Eating plant-based diet can reduce risk for heart problems in people with type 2 diabetes
June 18, 2018 - Lenabasum has acceptable safety and tolerability in diffuse cutaneous systemic sclerosis
June 18, 2018 - Study shows link between risky opioid prescriptions and increased odds of death
June 18, 2018 - Bone density scans could help determine likelihood of cardiovascular disease
June 18, 2018 - Mechanical thrombectomy appears to be important therapy for acute stroke in very old patients
June 18, 2018 - Novel compound as effective as FDA-approved antibiotics for treating deadly infections
June 18, 2018 - Ironwood Pharmaceuticals Announces FDA Orphan Drug Designation for Olinciguat for the Treatment of Sickle Cell Disease
June 18, 2018 - Surgical outcomes equivalent whether physician anesthesiologist assisted by nurse anesthetist or AA
June 18, 2018 - Studies provide insight into molecular changes prior to onset of arthritis
June 18, 2018 - Dyaco unveils specialist medical and rehabilitation equipment range in the UK
June 18, 2018 - Engineers develop algorithm to monitor joints of patients with arthritis
June 18, 2018 - Women with higher vitamin D blood levels have lower risk for breast cancer
June 18, 2018 - New studies help elucidate role of sleep in chronic pain
June 18, 2018 - Researchers link red meat sensitivity spread by ticks with heart disease
June 18, 2018 - Research explores role of autopsy in cardiovascular medicine
June 18, 2018 - Motif Bio Submits NDA for Iclaprim
June 18, 2018 - NIH-funded researchers identify target for chikungunya treatment
June 18, 2018 - Negative emotions are murkier, less distinct in adolescence
June 18, 2018 - Gut microbiome may be potential contributor to depression, anxiety in people with obesity
June 18, 2018 - Canakinumab reduces gout rate by more than half in atherosclerosis patients, study shows
June 18, 2018 - What Does the Future Hold?
June 18, 2018 - FDA Approves Keytruda (pembrolizumab) for Treatment of Refractory or Relapsed Primary Mediastinal Large B-Cell Lymphoma (PMBCL)
June 18, 2018 - School cliques don’t always click
June 18, 2018 - Three experts from The Tinnitus Clinic contribute to major review on pulsatile tinnitus
June 18, 2018 - Unwieldy health costs often stand between teachers and fatter paychecks
June 18, 2018 - Link between frailty and mortality remains unchanged despite lower death rates, study finds
June 18, 2018 - Sleep disorders appear to be first sign of serious neurological diseases
June 18, 2018 - Childhood, adult obesity raise risk of developing hip and knee osteoarthritis
June 18, 2018 - Study unravels ‘blood stem cell niche’ puzzle
June 18, 2018 - People with heart problems do not take enough exercise, shows study
June 18, 2018 - Strong Link Identified Between T2DM and Parkinson’s Disease
June 18, 2018 - Early childhood interventions show mixed results on child development
June 18, 2018 - Chronic use of opioids related to increased risk of fracture nonunion
June 18, 2018 - AHA: Family Perseveres After Losing Father to Heart Attack
June 18, 2018 - Oral propranolol seems safe for infantile hemangioma
June 18, 2018 - New study gives explanation for food’s prominence in memory
June 18, 2018 - First photoactive drug to fight Parkinson’s disease
June 18, 2018 - Patient’s self-evaluation of personality disorders not as far off as previously perceived
June 18, 2018 - Upadacitinib Monotherapy Meets All Primary and Ranked Secondary Endpoints Versus Methotrexate in a Phase 3 Study in Rheumatoid Arthritis
June 18, 2018 - Vitamin B3 has a positive effect on damaged nerve cells in Parkinson’s patients
June 17, 2018 - Sunovion Announces FDA Acceptance of New Drug Application for Apomorphine Sublingual Film (APL-130277)
June 17, 2018 - Bid to beat obesity focuses on fat that keeps us warm
June 17, 2018 - Work Stress May Increase Risk of Developing Atrial Fibrillation
June 17, 2018 - New Zealand’s secret recipe for active school travel: The neighborhood built environment
June 17, 2018 - New Medscape report reveals sexual harassment rate of physicians
June 17, 2018 - Surgical Blood Transfusions Tied to Clot Risk
June 17, 2018 - CDC chief makes $375K, far exceeding his predecessors’ pay
June 17, 2018 - Education linked to higher risk of short-sightedness
June 17, 2018 - Patients with Moderate-to-Severe Ulcerative Colitis Achieved Clinical and Endoscopic Remission with Mirikizumab in Phase 2 Trial
June 17, 2018 - UA registers a more customised multifocal lens to correct presbyopia
June 17, 2018 - U.S. FDA and European Medicines Agency Accept Regulatory Submissions for Review of Talazoparib for Metastatic Breast Cancer Patients with an Inherited BRCA Mutation
June 17, 2018 - Vaginal estrogen tablets, moisturizers and placebo gel all can improve vaginal discomfort
June 17, 2018 - Addition of Bezafibrate Beneficial in Primary Biliary Cholangitis
June 17, 2018 - Radiation Therapy for Cancer – National Cancer Institute
June 17, 2018 - Technology could help pregnant women detect health complications
June 17, 2018 - Study finds drop in frequent use of ED after Affordable Care Act
June 17, 2018 - Do Antipsychotic Meds for Kids Raise Diabetes Risk?
Are you and your primary care doc ready to talk about your DNA?

Are you and your primary care doc ready to talk about your DNA?

image_pdfDownload PDFimage_print

If you have a genetic mutation that increases your risk for a treatable medical condition, would you want to know? For many people the answer is yes. But such information is not commonly part of routine primary care.

For patients at Geisinger Health System, that could soon change. Starting in the next month or so, the Pennsylvania-based system will offer DNA sequencing to 1,000 patients, with the goal to eventually extend the offer to all 3 million Geisinger patients.

The test will look for mutations in at least 77 genes that are associated with dozens of medical conditions ranging from heart disease to cancer, as well as variability in how people respond to pharmaceuticals based on heredity.

“We’re giving more precision to the very important decisions that people need to make,” said Dr. David Feinberg, Geisinger’s president and CEO. In the same way that primary care providers currently suggest checking someone’s cholesterol, “we would have that discussion with patients,” he said. “‘It looks like we haven’t done your genome. Why don’t we do that?'”

Some physicians and health policy analysts question whether such genetic information is necessary to provide good primary care — or feasible for many primary care physicians.

The new clinical program builds on a research biobank and genome-sequencing initiative called MyCode that Geisinger started in 2007 to collect and analyze its patients’ DNA. That effort has enrolled more than 200,000 people.

Like MyCode, the new clinical program is based on whole “exome” sequencing, analyzing the roughly 1 percent of the genome that provides instructions for making proteins, where most known disease-causing mutations occur.

Using this analysis, clinicians might be able to tell Geisinger patients that they have a genetic variant associated with Lynch syndrome, for example, which leads to increased risk of colon and other cancers, or familial hypercholesterolemia, which can result in high cholesterol levels and heart disease at a young age. Some people might learn they have increased susceptibility to  malignant hyperthermia, a hereditary mutation that can be fatal since it causes a severe reaction to certain medications used during anesthesia.

Samples of a patient’s blood or spit are used to provide a DNA sample. After analysis, the results are sent to the patient’s primary care doctor.

Before speaking with the patient, the doctor takes a 30-minute online continuing education tutorial to review details about genetic testing and the disorder. Then the patient is informed and invited to meet with the primary care provider, along with a genetic counselor if desired. At that point, doctor and patient can discuss treatment and prevention options, including lifestyle changes like diet and exercise that can reduce the risk of disease.

About 3.5 percent of the people who’ve been tested through Geisinger’s research program had a genetic variant that could result in a medical problem for which clinicians can recommend steps to influence their health, Feinberg said. Only actionable mutations are communicated to patients. Geisinger won’t inform them if they have a variant of the APOE gene that increases their risk for Alzheimer’s disease, for example, because there’s no clinical treatment. (Geisinger is working toward developing a policy for how to handle these results if patients ask for them.)

Wendy Wilson, a Geisinger spokeswoman, said that what they’re doing is very different from direct-to-consumer services like 23andMe, which tests customers’ saliva to determine their genetic risk for several diseases and traits and makes the results available in an online report.

“Geisinger is prescribing DNA sequencing to patients and putting DNA results in electronic health records and actually creating an action plan to prevent that predisposition from occurring. We are preventing disease from happening,” she said.

Geisinger will absorb the estimated $300 to $500 cost of the sequencing test. Insurance companies typically don’t cover DNA sequencing and limit coverage for adult genetic tests for specific mutations, such as those related to the breast cancer susceptibility genes BRCA1 or BRCA2, unless the patient has a family history of the condition or other indications they’re at high risk.

“Most of the medical spending in America is done after people have gotten sick,” said Feinberg. “We think this will decrease spending on a lot of care.”

Some clinicians aren’t so sure. Dr. H. Gilbert Welch is a professor at the Dartmouth Institute for Health Policy and Clinical Practice who has authored books about overdiagnosis and overscreening, including “Less Medicine, More Health.”

He credited Geisinger with carefully targeting the genes in which it looks for actionable mutations instead of taking an all-encompassing approach. He acknowledged that for some conditions, like Lynch syndrome, people with genetic mutations would benefit from being followed closely. But he questioned the value of DNA sequencing to identify other conditions, such as some related to heart disease.

“What are we really going to do differently for those patients?” he asked. “We should all be concerned about heart disease. We should all exercise, we should eat real food.”

Welch said he was also concerned about the cascading effect of expensive and potentially harmful medical treatment when a genetic risk is identified.

“Doctors will feel the pressure to do something: start a medication, order a test, make a referral. You have to be careful. Bad things happen,” he said.

Other clinicians question primary care physicians’ comfort with and time for incorporating DNA sequencing into their practices.

A survey of nearly 500 primary care providers in the New York City area published in Health Affairs this month found that only a third of them had ordered a genetic test, given patients a genetic test result or referred one for genetic counseling in the past year.

Only a quarter of survey respondents said they felt prepared to work with patients who had genetic testing for common diseases or were at high risk for genetic conditions. Just 14 percent reported they were confident they could interpret genetic test results.

“Even though they had training, they felt unprepared to incorporate genomics into their practice,” said Dr. Carol Horowitz, a professor at the Icahn School of Medicine at Mount Sinai in New York, who co-authored the study.

Speaking as a busy primary care practitioner, she questioned the feasibility of adding genomic medicine to regular visits.

“Geisinger is a very well-resourced health system and they’ve made a decision to incorporate that into their practices,” she said. In Harlem, where Horowitz works as an internist, it could be a daunting challenge. “Our plates are already overflowing, and now you’re going to dump a lot more on our plate.”

Tagged with:

About author

Related Articles