Genetic counseling

Genetic counseling is an educational activity performed by physicians and allied health science professionals in which clients are informed of their chances of passing on inherited diseases and conditions. Most formally, genetic counseling is the province of physicians who are human geneticists, and of health professionals who are certified genetic counselors, the former bound by the ethics of having a physician-patient relationship with the client, and the latter bound by a set of professional ethics that insist on neutrality and client choice. As an activity, genetic counseling was named by the geneticist Sheldon Reed in 1947, to distinguish the identification and education about genetic conditions to potential parents from the pseudoscientific coercion of reproductive choice that had been imposed by eugenecists. As a profession, genetic counseling has been recognized since about 1975.

Reed was a humanist who argued that patients were legitimately informed of the medical consequences of childbearing but that the ultimate choice of whether or not to bear children was up to them, and not to the physican or any state authority. At the time he practiced, the ability for adults to control reproduction by amniocentesis and selective abortion did not exist. Basically, those individuals who were at high risk for passing serious conditions either remamined childless by being celibate or using birth control methods with abortion of any pregnancy. Those parents who chose to have children benefitted from an ability to better prepare for the needs of impaired infants, and their families.

Current role of genetic counseling in health care

These conditions have been chosen to illustrate some of the major issues faced in genetic counseling.

Current issues in assisted reproduction and genetic counseling

The specter of the Eugenics movements still hangs over current issues in reproduction. These issues are particularly acute in couples who believe in choice for abortion and high tech assisted reproduction, and who desire children but plan a limited number of offspring. In such cases, especially when there is a family history of genetic disease, parents may not be willing to accept a pregnancy without checking for a diagnosis that may mean the baby will either die in infancy or have a severe disease or disability. In the cases of recessive genes, where each parent is known to be a carrier, then -if tests exist for the gene, embryos or early placental material may be tested for the presence of the gene. If the conceptus is homozygous for the gene, then there is medical certainty of the disease, and parents may choose to end that pregnancy. Although peopke who believe that this is akin to infantide may choose not to end the pregnancy, and instead to have the baby, even then they have forewarning of what to expect. Depending on the exact disease, this may improve the life of the ill infant, and mitigate the impact on other children in the family.

or be faced with results of such tests that indicate probabilities only and no real certainty of extreme disability. For example, the most common abnormalities in chromosomal number (aneuploidy) include Down syndrome and Turner syndrome.

Even more controversial are tests for conditions in which there may be a specific isolated disabilty, like sensory hearing loss so severe as to preclude normal speech and language development without a cochlear implant, but unlikely to cause any other problem.

With the ability to test for for genetic and chromosomal abnormalities that are associated with disease, many fathers, mothers, and physicians struggle with the ethical implications of selective reproduction.