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Committee Opinion No. 724 Summary: Consumer Testing for Disease Risk

doi: 10.1097/AOG.0000000000002395
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ABSTRACT With the increased emphasis on patient-driven health care and readily available access to patients through the internet and media, many genetic testing companies have begun to market directly to consumers. Direct-to-consumer genetic testing raises unique concerns and considerations, including limited knowledge among patients and health care providers of available genetic tests, difficulty in interpretation of genetic test results, lack of oversight of companies that offer genetic testing, and issues of privacy and confidentiality. When undergoing any direct-to-consumer genetic testing, the consumer should be apprised of risk from screening or susceptibility test results that can neither prove nor eliminate disease potential. Because ordering an appropriate genetic test and interpretation of genetic test results are complex, an obstetrician–gynecologist or other health care provider with knowledge of genetics should be involved in ordering and interpreting the results of any genetic test with medical implications. When an individual presents test results to a health care provider from a direct-to-consumer genomic test that putatively assesses the risk of specific diseases, the patient should be referred to an obstetrician–gynecologist or other health care provider who is skilled in risk assessment for the diseases of interest and interpretation of genetic testing results in the context of the individual’s relevant medical and family history. Because of these considerations and in view of the fact that the interpretation of the results requires specific training and medical knowledge, direct-to-consumer genetic testing should be discouraged because of the potential harm of a misinterpreted or inaccurate result.

For a comprehensive overview of these recommendations, the full-text version of this Committee Opinion is available athttp://dx.doi.org/0.1097/AOG.0000000000002401.

Committee on Genetics:This Committee Opinion was developed by the American College of Obstetricians and Gynecologists’ Committee on Genetics in collaboration with Britton Rink, MD; Joseph Biggio Jr, MD; and Manijeh Kamyar, MD.

This information is designed as an educational resource to aid clinicians in providing obstetric and gynecologic care, and use of this information is voluntary. This information should not be considered as inclusive of all proper treatments or methods of care or as a statement of the standard of care. It is not intended to substitute for the independent professional judgment of the treating clinician. Variations in practice may be warranted when, in the reasonable judgment of the treating clinician, such course of action is indicated by the condition of the patient, limitations of available resources, or advances in knowledge or technology. The American College of Obstetricians and Gynecologists reviews its publications regularly; however, its publications may not reflect the most recent evidence. Any updates to this document can be found onwww.acog.orgor by calling the ACOG Resource Center.

While ACOG makes every effort to present accurate and reliable information, this publication is provided “as is” without any warranty of accuracy, reliability, or otherwise, either express or implied. ACOG does not guarantee, warrant, or endorse the products or services of any firm, organization, or person. Neither ACOG nor its officers, directors, members, employees, or agents will be liable for any loss, damage, or claim with respect to any liabilities, including direct, special, indirect, or consequential damages, incurred in connection with this publication or reliance on the information presented.

Copyright November 2017 by the American College of Obstetricians and Gynecologists. All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, posted on the Internet, or transmitted, in any form or by any means, electronic, mechanical, photocopying, recording, or otherwise, without prior written permission from the publisher.

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Official Citation: Consumer testing for disease risk. Committee Opinion No. 724. American College of Obstetricians and Gynecologists. Obstet Gynecol 2017;130:e270–3.

Received October 06, 2017

Accepted October 06, 2017

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Recommendations

The American College of Obstetricians and Gynecologists makes the following recommendations:

  • Direct-to-consumer genetic testing should be discouraged because of the potential harm of a misinterpreted or inaccurate result.
  • Given the insufficient data to support the use of single nucleotide polymorphisms (SNP) testing for medical purposes, SNP testing to provide individual risk assessment for a variety of diseases or to tailor drug therapy outside of an institutional review board-approved research protocol is not recommended.
  • Because ordering an appropriate genetic test and interpretation of genetic test results are complex, an obstetrician–gynecologist or other health care provider with knowledge of genetics should be involved in ordering and interpreting the results of any gen-etic test with medical implications.
  • When undergoing any direct-to-consumer genetic testing, the consumer should be apprised of risk from screening or susceptibility test results that can neither prove nor eliminate disease potential. The consumer also should be made aware of the potential for unanticipated information or information that may have implications for other family members.
  • Consumers should be aware of privacy concerns before undergoing direct-to-consumer commercial genetic testing, including who will have access to the results; what systems are in place to provide protection of confidential health information; how the sample will be handled after testing is complete; whether the test results will have an effect on issues related to life, long-term care, or disability insurability; and how genetic information will be handled if the company closes.
  • When an individual presents test results to a health care provider from a direct-to-consumer gen-omic test that putatively assesses the risk of spe-cific diseases, the patient should be referred to an obstetrician–gynecologist or other health care provider who is skilled in risk assessment for the diseases of interest and interpretation of genetic testing results in the context of the individual’s relevant medical and family history.
  • There currently are no standard clinical indications for the use of pharmacogenetic testing in the routine practice of obstetrics and gynecology.
© 2017 by The American College of Obstetricians and Gynecologists. Published by Wolters Kluwer Health, Inc. All rights reserved.