HomeResearchExtramural ResearchELSI Research Program Direct To Consumer Personal Geomics

Print Version

Direct to Consumer Personal Genomics

As technologies have improved and the costs of genome sequencing and genotyping have plummeted, services offering direct to consumer genetic testing have emerged. These services offer to provide, for a fee, information on an individual's genomic makeup with varying levels of detail and interpretation. Some of these services also provide individuals with the ability to search online databases that contain information on existing, new and emerging genetic associations so that they can explore on an ongoing basis what this genomic information might mean to them, in terms of health and disease, ancestral origins, and traits and behaviors.

The ability to obtain genomic information directly from a laboratory or private company has many implications for individuals, their families and society. It has the potential to provide health information for geographically isolated or underserved populations. It also may allow individuals more direct access to and control over their health information and may lead to healthier life style choices based on possible genetic susceptibilities. However, there also are potential risks in obtaining complex and ambiguous genetic and genomic information in this manner. The relationships between particular genetic variations and the presence or absence of specific diseases or traits are often tenuous and the interpretation of the findings can change over time. This makes the communication of clear and accurate genetic information challenging, even in ongoing face-to-face clinical settings. It is not known how individuals, and society more broadly, might understand and interpret this information when it is provided directly to individual consumers. Further, little is known about how the availability of this information only to those individuals with sufficient funds or technological access will affect disparities in health care access and outcomes. These issues require further exploration if we are to understand and address the risks and take full advantage of the benefits of this new approach to obtaining and communicating genomic information.

Possible Research Questions Include:

• What impact will genomic information provided directly to consumers have on 1) individual health behaviors; 2) individual levels of psychological relief or distress; 3) individual and societal concepts of health and illness; and 4) individual, familial, cultural and societal concepts of identity and relatedness?
  
  
• Assuming that more and more genomic information and testing services will be provided is this manner, what are the safest and most effective ways to communicate this information?
  
  
• How will the information be handled within families? Will family members be consulted prior to participation? Will test results be shared among family members? How will the information affect family relationships?
  
  
• How will the availability and use of direct to consumer genetic testing services to convey potentially health-relevant information affect the provider/patient relationship and the overall provision of health care? (e.g. Will individuals share this information with their health care providers? How will these providers interpret and use it?)
  
  
• What impact will the cost of this service have on the ability of individuals from all social and economic strata of society to participate and make use of the potential benefits of this information? How will this affect views about the value and accessibility of genomic information among diverse populations and communities?
  
  
• Will the availability of these services have an impact-either positive or negative-on current disparities in access to and use of health care services? Will it have an affect on disparities in health outcomes?
  
  
• Do current privacy and security policies adequately protect the information being generated and communicated by these services? If not, what policies will need to be instituted?
  
  
• Since it is unlikely that these services will be provided within a research context, how can data on positive outcomes or adverse events be tracked and evaluated?
  
  
• What types of regulatory models might be developed for these services, and what are the advantages and disadvantages of these models?
  
  
• Will the public availability of phenotypic and genotypic information from well known individuals affect current approaches to maintaining the confidentiality and privacy of personal genomic information in research, medical and non-medical settings?

Top of page

Last Reviewed: March 27, 2008