Genetic Testing and Privacy – What’s in your genes?


Genetic Testing and Privacy – What’s in your genes?

This is the Genomic age where information technology and genetics have come together to accelerate the pace of scientific and medical discovery to light speed. Personalized medicine is no longer a distant goal, but very much within our reach. Along with discovery comes the issue of privacy, identity and discrimination. The protection of identity of participants in medical research has traditionally been guaranteed, by selectively releasing de-identified and aggregate data, with identifying variables removed. This protection of the privacy of research participants has been the principle of fundamental research ethics. But in today’s genetic/genomic era, this approach is becoming increasingly difficult. As sets of genetic data proliferate rapidly, and which are broadly shared and maintained in public databases, the risks of privacy protection increase exponentially.

Figure 1:

Genetic information is very valuable to many stakeholders, including insurance companies, the pharmaceutical sector and employers. The insurance lobby is very strong with deep pockets and keeps pushing for open access of genetic/genomic data. Even though the genetic non-discrimination act GINA 2008 [] and other legislation is in place, discrimination by employers still occurs. But the most critical issue is that of protecting patient privacy, confidentiality and the controlling of disclosure of identity. While some funding organizations such as the National Institutes of Health ( and the Wellcome Trust ( have required broad data sharing as a funding requirement, they are now realizing the need for strong fire walls and rigid protection that genetic databases absolutely need to have, in order to protect the study participants. Genomic data also defines one’s identity in terms of race and ethnicity as well as providing information about other genetically related groups and family members

Who is affected: all participants in medical research, who undergo genetic testing or participate in genetic studies.

What is the issue: loss of privacy with respect to personal genetic information, making individuals vulnerable to discrimination by employers, insurance companies as well as open to stigmatization depending on their genetic condition.

Our stance as patient advocates: A large number of people lack the background to make informed decisions about genetic testing. Genetics tests and information are difficult to interpret appropriately. A positive genetic test may only indicate an increased risk for developing a disease or condition and not imply a clinical diagnosis. Genetic information is private, and disclosure should be at one’s discretion. Therefore, there is an urgent need for more governance and oversight by government and funding agencies to safeguard public interests, while continuing to support important medical research in genetics.

– -Figure 2:

Sudha Srinivasan, Ph.D. and David Diwa, Pharm.D. 


One Response to “Genetic Testing and Privacy – What’s in your genes?”

  1. tracykrauss Says:

    Medical information should remain private as with all information.

    Employers have access to medical/genetic information, which may be used to discriminate against their employees. One example posted is the discrimination faced by workers in the Burlington Northern Santa Fe Railroad Company, which the Equal Employment Commission revealed to be conducting genetic tests on its employees without their informed consent, as a means of counteracting workers compensation claims for job-related stress injuries.

    GINA provides strong new protections against access to genetic information and genetic discrimination in both the health insurance and employment settings. But it’s not enough we still have to work to ensure that discrimination does not occur.

    GINA does not address all possible forms of genetic discrimination. For example, it does not address life insurance, disability insurance, or long-term care insurance. GINA does not protect symptomatic individuals as well.

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