Genetic counseling

Genetic counseling is the process of investigating individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This field is considered necessary for the implementation of genomic medicine. The process integrates:

The practice of advising people about inherited traits began around the turn of the 20th century, shortly after William Bateson suggested that the new medical and biological study of heredity be called "genetics". Heredity became intertwined with social reforms when the field of modern eugenics took form. Although initially well-intentioned, ultimately the movement had disastrous consequences; many states in the United States had laws mandating the sterilization of certain individuals, others were not allowed to immigrate and by the 1930s these ideas were accepted by many other countries including in Germany where euthanasia for the "genetically defective" was legalized in 1939. This part of the history of genetics is at the heart of the now "non directive" approach to genetic counseling.

Sheldon Clark Reed coined the term genetic counseling in 1947 and published the book Counseling in Medical Genetics in 1955. Most of the early genetic counseling clinics were run by non-medical scientists or by those who were not experienced clinicians. With the growth in knowledge of genetic disorders and the appearance of medical genetics as a distinct specialty in the 1960s, genetic counseling progressively became medicalized, representing one of the key components of clinical genetics. It was not, though, until later that the importance of a firm psychological basis was recognized and became an essential part of genetic counseling, the writings of Seymour Kessler making a particular contribution to this. The first master's degree genetic counseling program in the United States was founded in 1969 at Sarah Lawrence College in Bronxville, New York. In 1979, the National Society of Genetic Counselors (NSGC) was founded and led by the first president, Audrey Heimler.

Diagnostic testing occurs when an individual is showing signs or symptoms associated with a specific condition. Genetic testing can be used to arrive at a definitive diagnosis in order to provide better prognosis as well as medical management or treatment options. Testing can reveal conditions can be mild or asymptomatic with early treatment, as opposed to debilitating without treatment (such as phenylketonuria). Genetic tests are available for a number of genetic conditions, including but not limited to: Down syndrome, sickle cell disease, Tay–Sachs disease, muscular dystrophy. Establishing a genetic diagnosis can provide information to other at-risk individuals in the family. ^{[citation needed]}

Any reproductive risks (e.g. a chance to have a child with the same diagnosis) can also be explored after a diagnosis. Many disorders cannot occur unless both the mother and father pass on their genes, such as cystic fibrosis; this is known as autosomal recessive inheritance. Other autosomal dominant diseases can be inherited from one parent, such as Huntington disease and DiGeorge syndrome. Yet other genetic disorders are caused by an error or mutation occurring during the cell division process (e.g. aneuploidy) and are usually not inherited.^{[citation needed]}

Screening tests are often used prior to diagnostic testing, designed to separate people according to a fixed characteristic or property, with the intention of detecting early evidence of disease. For example, if a screening test during a pregnancy (such as maternal blood screening or ultrasound) reveals a risk of a health issue or genetic condition, patients are encouraged to receive genetic counseling to learn additional information regarding the suspected condition. A discussion of the management, therapy and treatments available for the conditions may take place; the next step may differ depending on the severity of the condition and range from during pregnancy to after delivery. Patients may decline additional screening and testing, elect to proceed to diagnostic testing, or pursue further screening tests to refine the risk during the pregnancy.^{[citation needed]}

Presymptomatic or predictive testing occurs when an individual knows of a specific diagnosis (typically adult onset) in their family and has other affected relatives, but they themselves do not manifest any clinical findings at the time when they seek testing. The decision about whether or not to proceed with presymptomatic testing should entail a thoughtful approach and consideration of various medical, reproductive, social, insurance, and financial factors, with no "right" or "wrong" answer. Availability of treatment and medical management options for each specific diagnosis, as well as the genetics and inheritance pattern of the particular condition should be reviewed as inherited conditions can have reduced penetrance.^{[citation needed]}

Insurance and legal issues should also be discussed during genetic counseling. There are laws in the United States such as GINA (Genetic Information Non-discrimination Act) and ACA that provide certain protections against discrimination for individuals with genetic diagnoses.^{[citation needed]}