Medical genetics

Overlaps with other medical specialties are beginning to emerge, as recent advances in genetics are revealing etiologies for morphologic, endocrine, cardiovascular, pulmonary, ophthalmologist, renal, psychiatric, and dermatologic conditions.

[citation needed] In some ways, many of the individual fields within medical genetics are hybrids between clinical care and research.

This is due in part to recent advances in science and technology (for example, see the Human Genome Project) that have enabled an unprecedented understanding of genetic disorders.

This specialized training should include at least two years of clinical patient care and at least six months in genetic laboratory diagnostics.

This certificate serves as a benchmark for high standards in the specialty across Europe and is increasingly recognized by various national regulatory authorities.

[1] In order to become a board-certified practitioner of Clinical Genetics, a physician must complete a minimum of 24 months of training in a program accredited by the ABMGG.

degree (or their equivalent) and have completed a minimum of 12 months of training in an ACGME-accredited residency program in internal medicine, pediatrics, obstetrics and gynecology, or other medical specialty.

While cytogenetics historically relied on microscopy to analyze chromosomes, new molecular technologies such as array comparative genomic hybridization are now becoming widely used.

[citation needed] Molecular genetics involves the discovery of and laboratory testing for DNA mutations that underlie many single gene disorders.

The major goal of pediatric counseling is attempting to explain the genetic basis behind the child's developmental concerns in a compassionate and articulated manner that allows the potentially distressed or frustrated parents to easily understand the information.

Mendelian (single-gene) inheritance was studied in a number of important disorders such as albinism, brachydactyly (short fingers and toes), and hemophilia.

[citation needed] Medical genetics was a late developer, emerging largely after the close of World War II (1945) when the eugenics movement had fallen into disrepute.

[citation needed] The clinical setting in which patients are evaluated determines the scope of practice, diagnostic, and therapeutic interventions.

[citation needed] Chromosome studies are used in the general genetics clinic to determine a cause for developmental delay or intellectual disability, birth defects, dysmorphic features, or autism.

Patients suspected to have a metabolic condition might undergo the following tests:[citation needed] Each cell of the body contains the hereditary information (DNA) wrapped up in structures called chromosomes.

In some cases, particularly inborn errors of metabolism, the mechanism of disease is well understood and offers the potential for dietary and medical management to prevent or reduce the long-term complications.

Current research is actively seeking to use gene therapy or other new medications to treat specific genetic disorders.

Such restrictive diets can be difficult for the patient and family to maintain, and require close consultation with a nutritionist who has special experience in metabolic disorders.

Examples include the use of high doses of pyridoxine (vitamin B6) in some patients with homocystinuria to boost the activity of the residual cystathione synthase enzyme, administration of biotin to restore activity of several enzymes affected by deficiency of biotinidase, treatment with NTBC in Tyrosinemia to inhibit the production of succinylacetone which causes liver toxicity, and the use of sodium benzoate to decrease ammonia build-up in urea cycle disorders.

[citation needed] Certain lysosomal storage diseases are treated with infusions of a recombinant enzyme (produced in a laboratory), which can reduce the accumulation of the compounds in various tissues.

There are a variety of career paths within the field of medical genetics, and naturally the training required for each area differs considerably.

The unique status of genetic information and inherited disease has a number of ramifications with regard to ethical, legal, and societal concerns.

On 19 March 2015, scientists urged a worldwide ban on clinical use of methods, particularly the use of CRISPR and zinc finger, to edit the human genome in a way that can be inherited.

[citation needed] In Australia and New Zealand, medical geneticists are trained and certified under the auspices of the Royal Australasian College of Physicians, but professionally belong to the Human Genetics Society of Australasia and its special interest group, the Australasian Association of Clinical Geneticists, for ongoing education, networking and advocacy.

The difficulty that has been encountered in finding contributory alleles for complex diseases and in replicating positive associations suggests that many complex diseases involve numerous variants rather than a moderate number of alleles, and the influence of any given variant may depend in critical ways on the genetic and environmental background.