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:Interpretat

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.[1][2] The process integrates:

• Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence
• Education about inheritance, testing, management, prevention, resources
• Counseling to promote informed choices, adaptation to the risk or condition and support in reaching out to relatives that are also at risk[1][2]

History

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".[3] 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.[3] This part of the history of genetics is at the heart of the now "non directive" approach to genetic counseling.[4]

Sheldon Clark Reed coined the term genetic counseling in 1947 and published the book Counseling in Medical Genetics in 1955.[5] Most of the early genetic counseling clinics were run by non-medical scientists or by those who were not experienced clinicians.[6] 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.[7] 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.[8] The firstmaster's degree genetic counseling program in the United States was founded in 1969 at Sarah Lawrence College in Bronxville, New York.[9] In 1979, the National Society of Genetic Counselors (NSGC) was founded and led by the first president, Audrey Heimler.[10]

Detection and early processes

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]

Approach and session overview

Approach

There are different approaches to genetic counseling. The reciprocal-engagement model of genetic counseling practice includes tenets, goals, strategies, and behaviors for addressing patients' genetic concerns.[11] Some counselors favor a psycho-educational approach while others incorporate more psycho-therapeutic techniques. Genetic counseling is psycho-educational as patients "learn how genetics contributes to their health risks and then process what this means and how it feels."[12]

Whether the process of genetic counseling is a form of psychotherapy is up for debate. The relationship between the client and counselor is similar as are the goals of the sessions. As a psychotherapist aims to help his client improve his wellbeing, a genetic counselor also helps his client to address a "situational health threat that similarly threatens client wellbeing". Due to the lack of studies which compare genetic counseling to the practice of psychotherapy, it is hard to say with certainty whether genetic counseling can be "conceptualized as a short-term, applied, specific type of psychotherapy". However, there few existing studies suggest that genetic counseling falls "significantly short of psychotherapeutic counseling" because genetic counseling sessions primarily consist of the distribution of information without much emphasis placed on explaining any long-term impacts to the client.[13][14]

Structure

The goals of genetic counseling are to increase understanding of genetic diseases, discuss disease management options and explain the risks and benefits of testing.[15] Counseling sessions focus on giving vital, unbiased information and non-directive assistance in the patient's decision-making process. Seymour Kessler, in 1979, first categorized sessions in five phases: an intake phase, an initial contact phase, the encounter phase, the summary phase, and a follow-up phase.[16] The intake and follow-up phases occur outside of the actual counseling session. The initial contact phase is when the counselor and families meet and build rapport. The encounter phase includes dialogue between the counselor and the client about the nature of screening and diagnostic tests. The summary phase provides all the options and decisions available for the next step. If patients wish to go ahead with testing, an appointment is organized and the genetic counselor acts as the person to communicate the results. Result delivery can happen both in person or via phone. Often counselors will call out results to avoid patients having to come back in as results can take weeks to be processed. If further counseling is needed in a more personal setting, or it is determined that additional family members should be tested, a secondary appointment can be made.[citation needed]

Support

Genetic counselors provide supportive counseling to families, serve as patient advocates and refer individuals and families to community or state support services. They serve as educators and resource people for other health care professionals and for the general public. Many engage in research activities related to the field of medical genetics and genetic counseling. When communicating increased risk, counselors anticipate the likely distress and prepare patients for the results. Counselors help clients cope with and adapt to the emotional, psychological, medical, social, and economic consequences of the test results.[citation needed]

Each individual considers their family needs, social setting, cultural background, and religious beliefs when interpreting their risk.[17] Clients must evaluate their reasoning to continue with testing at all. Counselors are present to put all the possibilities in perspective and encourage clients to take time to think about their decision. When a risk is found, counselors frequently reassure parents that they were not responsible for the result. An informed choice without pressure or coercion is made when all relevant information has been given and understood.[citation needed]

After counseling for other hereditary conditions, the patient may be presented with the option of having genetic testing. In some circumstances no genetic testing is indicated, other times it may be useful to begin the testing process with an affected family member. The genetic counselor also reviews the advantages and disadvantages of genetic testing with the patient.[citation needed]