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Privacy and Ethical Considerations of Genetics Testing

Privacy and Ethical Considerations of Genetics Testing

Privacy and Ethical Considerations of Genetics Testing: Those interested in genetics testing may question the privacy and ethical considerations associated. Dramatic reduction in the cost of sequencing over the last decade or so has made genomic/genetic testing ubiquitous in many diseases. Clinical genomic sequencing may lead to the identification of mutations that may cause severe illness. Genomics testing encompasses prenatal/newborn screening, carrier screening, diagnostic testing, prognostic, or disease predisposition testing, and assaying for therapeutically actionable mutations in disease. While advances in genomics/genetic testing has made unparalleled momentous strides in improving healthcare, legal, ethical, and social implications of widespread availability of genetics data have emerged; some of which are described below.

Disclosure of Genomics Information to At-Risk Relatives

There are ethical and legal implications of genetic testing for disease-causing inherited mutations to an individual’s at-risk family members Screening for hereditary mutations that may cause disease substantially help disease risk mitigation, early intervention, and disease prevention; however, the knowledge of an inherited disease-causing mutation has far reaching connotations that may directly impact close family members. A clinician should encourage a patient to disclose such information to close family members and help the patient communicate potential predictive and diagnostic genetic information. Such disclosures will help mitigate disease risk and encourage appropriate screening, interventions, and genetic counselling. However, the duty to disclose should be balanced with the fact that the patient’s family may not want to be cognizant of sensitive genetic data and should be respectful of their right to “not to know”.

Secondary Findings of Genomics Testing

Secondary or incidental findings of genetic testing refer to the identification of pathogenic genetic variants not associated with the original disease that the test was performed. There has been much controversy and debate whether medical professionals are obligated to share secondary findings with the patient. The American College of Medical Genetics has recommended the disclosure of secondary findings in 59 disease causing genes regardless of the relevance to the patient’s current disease. However, the patient has a right to decline being privy to secondary genomics findings after a detailed informed consent process prior to sequencing.

Genetic Testing and Privacy Concerns

An individual’s genome has been conceived as unique personal identifier or a book of life. As such, there is inherent apprehension that the individual genetic information may be misused. Concerns exist that genetic predisposition to a disease may bias insurance companies or lead to discrimination by employers. Even when the data are de-identified, the plethora of genomics and other personalized omics information may lead to the risk of re-identification. United States congress passed the Genetic Information Nondiscrimination Act (GINA), in 2008 to prohibit discrimination in employment decisions including hiring, firing, compensation and promotion. For instance, it is illegal for an employer to reassign an employee to a less stressful job upon finding a genetic predisposition to heart disease. Under the GINA act, harassment based on genetic information is also illegal. GINA also prohibits health insurance companies to deny insurance based on the genetic makeup of the individual. The Health Insurance Portability and Accountability Act (HIPAA) was amended in 2013 to accommodate the GINA act such that an individual’s genetic information cannot be used by health insurers to make any decisions about health insurance benefits, coverage terms or premiums. Predictive genetic test results cannot be deemed a pre-existing condition.

Genomics Use in Law Enforcement

Genetic information is permitted to use in law enforcement to investigate crimes, and to exculpate individuals from false accusations. Federal Bureau of Investigation (FBI) has a Combined DNA Index System (CODIS) that is used to compare the DNA of convicted criminals from national databases to those found at a crime scene.


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