Genetic Testing
Loren Bonner
The market for direct-to-consumer (DTC) testing is booming. DTC genetic testing is marketed directly to consumers, and the kits can be bought online or in stores, including in pharmacies.
More and more companies are providing these tests along with a growing range of health conditions and traits covered by them. According to the National Library of Medicine, the most popular tests use genetic variations to make predictions about health, provide information about common traits, and offer clues about a person’s ancestry.
Many companies have entered the space because of high profit margins, but often without the proper evidence to support the results. And little regulation exists for the tests to begin with. To state it bluntly, DTC testing is becoming a confusing marketplace for both patients and health care practitioners. Here’s what pharmacists should know.
1. Understand that the information from the test will not provide everything needed to make sound clinical recommendations. For example, if a pharmacist is approached by a patient who has received pharmacogenetic testing results through a DTC testing company, the pharmacist should convey to the patient that they should not change how they take their medication without first speaking to their health care provider.
2. Know how to evaluate a product and a lab, especially if recommending testing for a patient. Pharmacists should confirm that the testing laboratory is Clinical Laboratory Improvement Amendments (CLIA) certified. This can be done by searching CMS’s “Laboratory Demographics Lookup” portal at www.cms.gov/Regulations-and-Guidance/Legislation/CLIA/CLIA_Laboratory_Demographic_Information.
3. Little regulation of DTC testing exists. In the pharmacogenomics space, FDA said companies cannot market genetic tests that have not been reviewed by FDA for safety and effectiveness.
Currently, only one FDA-approved DTC pharmacogenomics product—23andMe’s Personal Genome Service Phar-macogenetic Reports test—can bypass a health care practitioner completely.
However, FDA stated that the testing results information should not be used to “start, stop, or change any course of treatment.”
FDA has warned patients and practitioners that other genetic tests are available that are not FDA approved yet claim they can predict a patient’s response to specific medications. The laboratory-developed tests from individual labs have not been widely evaluated by FDA, and therefore the products have not been approved for marketing.
4. Review the level of evidence for any recommendations. Evidence-based guidelines, such as those from the Clinical Pharmacogenetics Implementation Consortium, should serve as a basis for interpretation of pharmacogenomic data. In certain cases, FDA-approved package labeling can be useful, although pharmacogenomics data are not consistently pre-sented there.
Pharmacists trained in pharmacogenomics should interpret any results in direct collaboration with the patient’s pri-mary care provider as well as the patient. If a pharmacist is approached by a patient who has received disease risk testing results from a DTC testing company, the pharmacist can state that these testing results do not indicate that the person will or will not get the disease. The pharmacist needs to refer the patient to their primary care provider.
5. For pharmacists selling DTC products, make sure you know the resources in your community for patients to fol-low up with. If a pharmacist does not have training or expertise, they should not hesitate to tell the patient these DTC data should be interpreted by an individual with expertise in the field. It’s a good idea for a pharmacist to have a resource “in their back pocket” as well. For instance, a pharmacist can identify pharmacogenomics expertise through colleges or schools of pharmacy and refer the patient to them.
Information provided with help from David Kisor, PharmD, director of pharmacogenomics, Manchester University College of Pharmacy, Indiana; and from Amina Abubaker, PharmD, AAHIVP, owner, and Jessica Sinclair, PharmD, clinical pharmacist, Rx Clinic Pharmacy, Charlotte, NC.