Clinical or Medical Genetics is a relatively young, small speciality in the UK, which has grown steadily since the first Genetics Clinic began at Great Ormond Street Hospital in 1946. There are currently about 90 NHS Consultant Clinical Geneticists working at 25 Regional Centres around the UK, supported by hundreds of paramedical and scientific professionals.
Due to scientific and technological advances and increasing public and professional awareness of genetic issues, Medical Genetics is rapidly gaining importance, and the need for substantial growth in staff numbers is being increasingly recognised at the highest levels.
The terms are often used interchangeably - some departments are called 'Clinical Genetics' and others 'Medical Genetics'. Both deal with the application of the science of genetics to human beings' medical problems.
Some people however, recognise a distinction between the terms, using 'medical genetics' to refer to those aspects carried out exclusively by medical doctors (such as diagnosis), and 'clinical genetics' to refer to aspects also carried out by non-medical clinical staff (such as genetic counselling).
The Royal College of Physicians, which oversees the training of medical specialists (doctors), refers to the speciality as 'Clinical Genetics', and specialist physicians as 'Clinical Geneticists'.
Once a person decides to proceed with genetic testing, a medical geneticist, primary care doctor, specialist, or nurse practitioner can order the test. Genetic testing is often done as part of a genetic consultation.
Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue. For example, a procedure called a buccal smear uses a small brush or cotton swab to collect a sample of cells from the inside surface of the cheek. The sample is sent to a laboratory where technicians look for specific changes in chromosomes, DNA, or proteins, depending on the suspected disorder. The laboratory reports the test results in writing to a person's doctor or genetic counselor, or directly to the patient if requested.
Newborn screening tests are done on a small blood sample, which is taken by pricking the baby's heel. Unlike other types of genetic testing, a parent will usually only receive the result if it is positive. If the test result is positive, additional testing is needed to determine whether the baby has a genetic disorder.
Before a person has a genetic test, it is important that he or she understands the testing procedure, the benefits and limitations of the test, and the possible consequences of the test results. The process of educating a person about the test and obtaining permission is called informed consent.
Genetic discrimination occurs when people are treated differently by their employer or insurance company because they have a gene mutation that causes or increases the risk of an inherited disorder. Fear of discrimination is a common concern among people considering genetic testing.
Several laws at the federal and state levels help protect people against genetic discrimination. In particular, a federal law called the Genetic Information Nondiscrimination Act (GINA) is designed to protect people from this form of discrimination.
GINA has two parts: Title I, which prohibits genetic discrimination in health insurance, and Title II, which prohibits genetic discrimination in employment. Title I makes it illegal for health insurance providers to use or require genetic information to make decisions about a person's insurance eligibility or coverage. This part of the law went into effect on May 21, 2009. Title II makes it illegal for employers to use a person's genetic information when making decisions about hiring, promotion, and several other terms of employment. This part of the law went into effect on November 21, 2009.
GINA and other laws do not protect people from genetic discrimination in every circumstance. For example, GINA does not apply when an employer has fewer than 15 employees. It does not cover people in the U.S. military or those receiving health benefits through the Veterans Health Administration or Indian Health Service. GINA also does not protect against genetic discrimination in forms of insurance other than health insurance, such as life, disability, or long-term care insurance.
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