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Tufts OpenCourseware
Author: Laurie Ann Demmer, M.D.
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Legal and Ethical Issues in Human Genetics


Physicians are required by law to hold what they learn from their patients in confidence.

  • Genetic information is FAMILY-CENTERED by nature
  • When is it ok to breach confidentiality?

Malpractice Law

  • Failure to alert patients about relevant genetic tests may lead to wrongful birth lawsuits.
  • Down Syndrome and amniocentesis
  • Neural tube defect and alpha-fetal protein
  • Canavan screening in Ashkenazi Jewish
  • Cystic Fibrosis screening offered to all couples considering a pregnancy

Genetic Discrimination

  • Concern that genetic information will be used to deny or limit access to insurance and employment.
  • Federal (HIPPA) and state laws in place to provide protection for patients in group health plans.
  • Current laws do not address discrimination by Life Insurance Companies
  • EEOC issued a guideline in 1995 interpreting the American with Disabilities Act as forbidding employers from using genetic information in hiring or promotion.
  • Despite widespread fears, there is little evidence that predictive genetic information has yet been used to deny health insurance or employment.

Regulation of Human Genome Research

  • Intellectual Property: who owns the tissue samples: patient vs. laboratory
  • To whom does “The Human Genome” belong?
    • Individuals
    • Family
    • Society

Gene Patents

  • The creation of intellectual property based on DNA sequence information
  • Patents on human genes ‘offend the principle of the sanctity of human life”
  • Biotechnology industry: patent protection is “an essential element of the commercialization process”.

Ethical Challenges in Genetic Testing

  • Rapid advances in genetic technology and the Human Genome Project are predicted to revolutionize current medical practice.
  • Are physicians/geneticists ordering genetic tests aware of the relevant ethical principles and legal obligations resulting from this new technology?


  • Patients facing choices regarding genetic testing are entitled to exercise personal autonomy free from undue pressures and equipped with adequate information to understand the implications for themselves and others of the available options. (B Dickens, 1996)


Beneficence: The duty to do and to maximize good

Nonmaleficence: the duty to do no harm or to minimize harm in pursuing a greater good

Legal Responsibilities of Health Care Providers

  • Patient-physician confidentiality ensures maintenance of privacy for the patient
  • Known exceptions to the protection of confidentiality of medical information:
    • Tarasoff case (1976)-threat of violence

Genetic Testing in Minors

  • Carrier testing: wait until the child is old enough to decide for him/herself if knowledge of carrier testing is desired (privacy, non-maleficence)
  • Pre-dispositional testing: consider testing if a defined medical benefit can be seen during childhood (beneficence)
  • Retinoblastoma, FAP, VHL: childhood tumors can be screened for, improving survival
  • Pre-symptomatic testing for late onset diseases: wait until child is old enough to decide for him/herself if knowledge of genetic status is desired. (privacy, non-maleficence)
  • Pre-symptomatic testing for childhood onset diseases:???

Issues to Consider:

  • What are the rights of the children? Can parents speak for them?
  • Is there any point to doing testing if this is an untreatable condition?
  • Do you have to order a genetic test just because parents request it?
  • Are you worried that pre-symptomatic children will be treated differently by the parents than unaffected children?