PRACTICAL GENETICS
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risks . This is important when the patient comes to the physician before or after testing . The doctor has to understand the patients ’ motivation for seeking the test , and then help them understand how to search for a company that focuses the test on the information the patient wants .
The physician who is counseling the patient may want to bring up other topics for the patient to consider :
1 .) Cost Tests obtained by the patient through DTC genetics testing firms are generally not covered by insurance . Medicare ’ s National Coverage Determination ( NCD ) # 90.2 for Next Generation Sequencing implemented Nov . 13 , 2020 , provides guidelines for certain conditions including somatic / acquired cancer and germline / inherited cancers meeting specific criteria . Medicare will not cover consumer purchased DTC genetic testing . Most insurances require prior authorization to ensure that genetic tests are being appropriately ordered by the treating physician and will impact care .
2 .) Privacy In an age where private information can be obtained by others for legitimate or nefarious means , there are risks to the individual obtaining DTC genetic testing . The consumer should be asking how his or her information is being safe-guarded . This includes knowing what steps can prevent hacking of information . The person ’ s genomic mix is as personal as the Social Security Number and has to be protected . Besides the data returned to the patient , voluminous genetic information has been stored . In the case of those in the public eye , malicious leaking of information could wreak havoc . Imagine for instance , during a campaign , if someone broadcast that a certain candidate knew of , yet had not disclosed , a genetic tendency to Alzheimer ’ s .
3 .) How will the information be used ? It ’ s one thing to have fun knowing ancestry information . But beware : just reading your risk estimate of certain genetic disorders can feel like sitting on a time bomb . Knowledge of a carrier state can influence the choice of spouse , something the individual should consider in advance . Will this burdensome knowledge really be helpful ? At least under federal legislation , information
8 LOUISVILLE MEDICINE
" In an age where private information can be obtained by others for legitimate or nefarious means , there are risks to the individual obtaining DTC genetic testing . The consumer should be asking how his or her information is being safeguarded ."
about results of genetic testing cannot be used adversely by insurance companies . This is from the 2008 Genetic Information Nondiscrimination Act ( GINA ). However , GINA has exceptions and allows life insurance companies to use genetic information when determining coverage .
4 .) Who will help counsel the patient ? Many of the DTC genetic testing companies just provide a report which may have technical information not easily understood by the patient . Some will provide a listing of certified genetic counselors in the patient ’ s area . Handling genetic data is more complex than handling personal finances . The certified genetic counselor can be thought of as akin to a financial planner for the patient . However , this service may require additional out of pocket cost for the patient .
5 .) What does the patient hope to get out of the genetic report ? Just as patients use Google or Bing to attempt self-diagnosis or treatment , increasing numbers of people are looking to genetic testing as a source of personalized medical information . The patient may not be able to sort out the relative importance of the results found in the report .
Physicians have learned to shepherd their patients through the internet minefield . They will have to do so with the increasing adoption of genetic data offered by the DTC genetic testing firms . This part of translational medicine will be playing a greater role in the future . Physicians must learn how to play with these new tools to keep their patients safe and healthy .
References 1 . Ancestry . com : Every Family Has a Story--Find Yours : https :// Ancestry . com 2 . 23andMe : Our Mission : https :// mediacenter . 23andme . com / 3 . Invitae : Your health starts in your genes : https :// www . invitae . com / en
4 . How should primary care physicians respond to direct-to-consumer genetic test results ? Kyle B . Brothers , MD , PhD and Esther E . Knapp , MD , MBE AMA J Ethics . 2018 ; 20 ( 9 ): E812-818 . doi : 10.1001 / amajethics . 2018.812 . https :// journalofethics . ama-assn . org / sites / journalofethics . ama-assn . org / files / 2018-08 / cscm2-1809 _ 0 . pdf
Dr . James is the Senior Medical Director , Passport Health Plan by Molina Healthcare .
Dr . Fickie is a practicing clinical geneticist in Cambridge , Massachusetts and a medical director for Highmark Inc . in Pittsburgh , Pennsylvania . ( non-member )