1. Zinberg, Randi E. MS, CGC
  2. Capitulo, Kathleen Leask DNS, RN

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Advances in human genetics are occurring on a daily basis. There is no doubt that the increased knowledge of underlying genetic mechanisms of diseases may lead to potentially enhanced quality of life and life-saving breakthroughs. There has been much progress toward identifying the molecular basis of single-gene disorders, and progress is taking place on understanding the genetic contribution to complex common diseases, particularly those of adulthood. That being said, the question is, each time a genetic basis of a disease is identified and a test is created, do we have to run to the front of line to submit to testing? In my opinion, the answer is "No."


There are numerous questions each of us must answer when considering genetic testing. What will the test really tell you? Although some tests may tell if you would definitively develop the disease (for instance, Huntington's disease), the test cannot predict when symptoms will begin to appear. For other conditions, the result may only signal a susceptibility to a disease. Another question is, when in the course of your life do you want to know the information? For example, if you are considering testing for a mutation that is associated with an increased risk of breast and ovarian cancers (meaning that prophylactic mastectomy and oophorectomy is an option), when would you want to know; before children or after children? How will this knowledge impact your family? What effect will it have on your relationships, career, future plans, health insurance, and life insurance? What about your psychological well-being and your self-esteem? What can you do about the genetic information-Are there any preventive measures or treatments available?


Issues regarding the right to know or not to know genetic information can be examined throughout the life cycle. Should women have to know, and make decisions on, a fetus possibly developing an adult-onset disease? Another area familiar to MCN readers is newborn screening, which is currently mandated by each state in the United States. In newborn screening, the right not to know is taken out of the hands of the parents, except in very rare circumstances. Testing is mandated, and results are reported. Should states mandate that parents know that their newborn has a susceptibility to, or is at risk for, an adult-onset disease? How would that information affect the parent-child relationship, or how would the child be treated in the family? What if parents learn of their own status and they do not want to know? How will parents use this information for future reproductive decision making?


If the results of genetic testing relate only to an individual adult,and the adult has considered the consequences, then the adult has a right not to know.


The American College of Medical Genetics and American Society of Human Genetics (1995) issued a joint position statement entitled "Points to Consider: Ethical, Legal and Psychosocial Implications of Genetic Testing in Children and Adolescents." Among the recommendations are that "Timely medical benefit to the child should be the primary justification for genetic testing in children and adolescents." The document states that though there may be justification for testing minors, because of the issues involved and the potential for harm, testing should generally be deferred to adulthood, protecting their right of decision making.


So, do we have the "right" to remain in "genetic ignorance"? It comes down to understanding what genetic "ignorance" or "knowledge" means and deciding whether, and importantly when, we want to know the information. The argument that simply by its existence a specific genetic test will benefit an individual, therefore making it a moral obligation to pursue, belies the complexity of the issues as they stand today. Bennett (2001) states, "the only exception (to the right not to know) is where our ignorance is likely to cause serious harm to others." These exceptions will most likely be rare. Genetic and genomic medicine is exciting and full of promise, but as in any area of medicine, healthcare providers should engage in an informed decision-making process and respect their patient's right to choose.




American College of Medical Genetics and American Society of Human Genetics. (1995). ASHG/ACMG report: Points to consider: Ethical, legal and psychosocial implications of genetic testing in children and adolescents. American Journal of Human Genetics, 57, 1233-1241. [Context Link]


Bennett, R. (2001). Antenatal genetic testing and the right to remain in ignorance. Theoretical Medicine, 22, 461-471. [Context Link]