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Patients Should Always Receive Their Genomic Information According to Recent Report

Posted Apr 08 2013 12:00am

I have always been enthusiastic about the need to provide patients and healthcare consumers with most, if not all, of their lab test results shortly after they become available. The only exceptions would be results relating to newly diagnosed serious diseases such as cancer where the information should be first communicated in person by a physician. In such cases, there should be a time delay baked into the release of the information to patients.

Genomic testing has prompted a new debate about the availability of test results. The wide availability of patient portals/personal health records (PHRs) has also fueled these discussions  (see: Publishing Test Results in Patient Portals: Holding a Tiger by the TailNext Step in Patient Portals: Secure Messaging and Administrative FunctionsUPMC Deploys Its Patient Portal on iPhones and iPads ). Fourteen genetics experts and American College of Medical Genetics and Genomics (ACMG) have come out in favor of broad patient access to their DNA results (see: Patients Should Get DNA Information, Report Recommends ). Here's an excerpt from the article:

Fourteen genetics experts, with the backing of the American College of Medical Genetics and Genomics (ACMG), are proposing a radical shift in how and what patients learn about what's in their DNA. They argue that anyone whose genome is sequenced for any medical reason should automatically learn whether 57 of their genes put them at risk of certain cancers, potentially fatal heart conditions, and other serious health problems. The information would be provided whether patients want it—and often when they're seeking care from a doctor for something else entirely—because, the experts say, knowing the makeup of this DNA could save an individual's life. The recommendations apply to sequencing children's DNA as well, even if there's no preventive care available until adulthood. The college's guidelines on a range of issues are usually written by influential geneticists and physicians and carry significant weight, although they are not binding. Today's report includes the first recommendations ever given to labs and doctors about how to handle unexpected findings when the genome or its protein-coding "exome" is sequenced.The ACMG recommendations...come as DNA sequencing is about to take off in doctor's offices and hospitals....The effort is part of a much broader debate that spans research and clinical care over which genetic results should be returned—an ethical, legal, and practical minefield....Labs, they suggested, should "seek and report" mutations in dozens of genes, many of them linked to cancer syndromes. The doctor who ordered the test would be responsible for communicating the results to patients....Several experts who did not participate in the report voiced practical and ethical concerns. "The assumption that it's always benign to give that information, and potentially helpful—I don't think that's true," said...a law professor who studies bioethics and genetics...."Information is often very damaging to people, that's why they don't want it." 

What I find fascinating about this news is that a group of genetics and genomics experts have now come down strongly on the side of wide dissemination of medical test results. I use this latter phrase with some caution because the definition of medical test information is changing rapidly. With the emergence of web-based DNA testing sites such as 23andMe, medical consumers are gaining direct access to such test results (see: Clinical Labs Have Much to Learn from the Genetic Testing Web Sites23andMe Builds Online Sarcoma Research Community23andMe Requests FDA Clearance for DNA Saliva Testing ). Physicians and hospital-baed medical labs no longer totally control this franchise. So, in a sense, this discussion is somewhat academic because the "horse is already out of the barn." Pathology informaticians may be involved in discussions about whether the appropriate waiting period for a surgical pathology result should be seven days or ten days but, in reality, the basic principle has already been established. Patient and healthcare consumers have a right to access most, if not all, of their medical records including all lab test results in a timely fashion and frequently within 24 to 48 hours after posting in the EHR.

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