Progress in Whole Genome Sequencing (WGS) will soon allow a large number of individuals to have their genome fully sequenced. This lays the foundations to improve modern healthcare, enabling a new era of personalized medicine where diagnosis and treatment is tailored to the patient's genetic makeup. It also allows individuals motivated by personal curiosity to have access to their genetic information, and use it, e.g., to trace their ancestry. However, the very same progress also amplifies a number of ethical and privacy concerns, that stem from the unprecedented sensitivity of genomic information and that are not well studied. This paper presents an exploratory ethnographic study of users' perception of privacy and ethical issues with WGS, as well as their attitude toward different WGS programs. We report on a series of semi-structured interviews, involving 16 participants, and analyze the results both quantitatively and qualitatively. Our analysis shows that users exhibit common trust concerns and fear of discrimination, and demand to retain strict control over their genetic information. Finally, we highlight the need for further research in the area and follow-up studies that build on our initial findings.
Also, prior work analyzed the issue of labor discrimination in relationship to disease predisposition, mostly from the legal standpoint. We refer to the work by @cite_39 for details, along with a review of well-known rulings.
@cite_39
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Purpose: The impact of laws restricting health insurers' use of genetic information has been assessed from two main vantage points: (1) whether they reduce the extent of genetic discrimination and (2) whether they reduce the fear of discrimination and the resulting deterrence to undergo genetic testing. A previous report from this study concluded that there are almost no well-documented cases of health insurers either asking for or using presymptomatic genetic test results in their underwriting decisions, either before or after these laws, or in states with or without these laws. This report evaluates the perceptions and the resulting behavior by patients and clinicians. Methods: A comparative case study analysis was performed in seven states with different laws respecting health insurers' use of genetic information (no law, new prohibition, mature prohibition). Semistructured interviews were conducted in person with five patient advocates and with 30 experienced genetic counselors or medical geneticists, most of whom deal with adult-onset disorders. Also, multiple informed consent forms and patient information brochures were collected and analyzed using qualitative methods. Results: Patients' and clinicians' fear of genetic discrimination greatly exceeds reality, at least for health insurance. It is uncertain how much this fear actually deters genetic testing. The greatest deterrence is to those who do not want to submit the costs of testing for reimbursement and who cannot afford to pay for testing. There appears to be little deterrence for tests that are more easily affordable or when the need for the information is much greater. Fear of discrimination plays virtually no role in testing decisions in pediatric or prenatal situations, but is significant for adult-onset genetic conditions. Conclusion: Existing laws have not greatly reduced the fear of discrimination. This may be due, in part, to clinicians' lack of confidence that these laws can prevent discrimination until there are test cases of actual enforcement. Ironically, there may be so little actual discrimination that it may not be possible to initiate good test cases.