Journal of Genetic Counseling

, Volume 21, Issue 3, pp 402–412 | Cite as

Direct-to-Consumer Personal Genomic Testing: A Case Study and Practical Recommendations for “Genomic Counseling”

Case Study


Technological advances and information-seeking consumers have pushed forward the movement of direct-to-consumer (DTC) genetic testing. Just like with other types of testing, there are potential risks, benefits and limitations. A major limitation of DTC testing is the incomplete view it provides regarding lifetime risk for common, complex diseases, since most tests only analyze 1–2 single nucleotide polymorphisms (SNPs) and do not include evaluation of medical or family histories, which is necessary to risk assessment. Further, it is not currently well-established whether personal genomic testing results will lead toward improved health behaviors, adverse psychological effects or potential overuse of the health care system. To display these and other issues, we present an in-depth case study of an individual who ordered DTC genetic testing and subsequently sought genetic counseling. This case presents a unique learning experience for the field of genomic counseling, as the patient did not fit the typical assumptions regarding ‘early adopters’ of DTC testing. It also allowed the genetics health care providers involved in the case to identify gaps in current genetic counseling practice that need to be filled and approaches to employ for successful delivery of genomic counseling. Based on our experience, we developed practical recommendations for genomic counseling, which include novel approaches to case preparation, use of electronic tools during the counseling session, and focusing on education as the major component of the genomic counseling session, in order to provide patients with the knowledge necessary to independently interpret and understand large amounts of genomic testing information provided to them.


Genomic counseling Direct-to-consumer genetic testing Personal genomics Family history Risk assessment 


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Copyright information

© National Society of Genetic Counselors, Inc. 2012

Authors and Affiliations

  1. 1.Division of Human Genetics, Department of Internal MedicineThe Ohio State University Medical CenterColumbusUSA
  2. 2.Center for Personalized Health CareThe Ohio State University Medical CenterColumbusUSA
  3. 3.Center for Molecular and Human GeneticsNationwide Children’s HospitalColumbusUSA
  4. 4.Division of Human Genetics, Center for Personalized Health CareThe Ohio State University Medical CenterColumbusUSA

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