What Everyone Should Know About Genetic Counseling

The growing field of genetic counseling can provide information, insight, and understanding for individuals regarding hereditary diseases, a predisposition for conditions, and abnormalities. As scientific and medical advances provide increased knowledge about which illnesses, diseases and conditions, are, in fact, genetically determined – each individual is better equipped to make informed choices and decisions about health and reproductive issues.

Each cell in the human body contains 46 chromosomes, or 23 pairs, and these chromosomes contain thousands of genes which carry all of the information about each person’s every characteristic. The study of genes and biological heredity is knows as genetics. Each individual inherits half of their chromosomes from his or her biological father and half from his or her biological mother (Every individual receives a gene from each parent for every physical and mental characteristic.) Although these chromosomes are exactly the same as those in each biological parent, the chromosomes come together in an individual way and the genetic material is “re-mixed,” combining to form a unique individual.

In addition to dictating every healthy characteristic, genes can also carry abnormalities, genetic illnesses and predisposition for certain health conditions and diseases. This is where genetic counseling can be helpful. Diseases such as early-onset Alzheimer’s disease, hemophilia and muscular distrophy have all been linked to specific chromosomes. Additionally, a predisposition for certain types of cancer (such as breast cancer) have also been identified to run in families. A geneticist can help evaluate family history, identify some specific abnormalities (or whether a person is a “carrier” for an abnormality) and provide important information to an individual.

This can be especially helpful for prospective parents. In families with a hereditary disorder, or a history of mental illness, heart disease, asthma or other conditions, consulting a doctor and/or geneticist makes good sense.

An individual should start a conversation with his or her physician who may be able to provide necessary information, or may refer the individual to a geneticist. The genetic counselor will conduct an interview and take down all the detailed family history, take blood tests and other diagnostic tests, and collect a comprehensive background before providing feedback. The geneticist will advise the individual of any precautions, preventions, or further testing that should be done. For some diseases and abnormalities, a clear diagnosis can be given, while for others, a geneticist will only be able to identify risk factors.