Human genetics

Human genetics became a predominant field of 20th-century science once techniques in molecular biology were applied to medical knowlege and to pedigree studies in families with inherited disease. The clinical practice of human genetics has been a recognized sub-specialty in medicine in many countries of the world, with a focus on rare diseases that are the result of single gene alleles that interfere with normal metabolism, chromosomal abnormalities, and genetic reasons for infertilty or repeated miscarriage. As the human genome has been sequenced, and more alleles have been identified that play a role in human health and disease, general medicine and internal medicine have begun to include genomics as part of practice, but the numbers of board-certified or eligible physicians specializing in human genetics has not increased.(reference:Korf BR, Feldman G, Wiesner GL. Report of Banbury Summit meeting on training of physicians in medical genetics, October 20–22, 2004. Genet Med 2005;7:433–438.)

Development of human genetics as a field in medicine and clinical laboratory science

In the USA, "MD clinical geneticists comprise the primary medical specialist group trained and certified in clinical genetics, although their numbers are small when compared with other medical specialties. In 2005, there were only 1,178 board-certified MD clinical geneticists among the more than 697,000 board-certified physicians."(reference:Cooksey JA. Forte G. Flanagan PA. Benkendorf J. Blitzer MG. The medical genetics workforce: an analysis of clinical geneticist subgroups. [Journal Article. Genetics in Medicine. 8(10):603-14, 2006 Oct. UI: 17079876

Educational, training, and certification requirements

(ref:Korf BR, Feldman G, Wiesner GL. Report of Banbury Summit meeting on training of physicians in medical genetics, October 20–22, 2004. Genet Med 2005;7:433–438.)

Important leaders in the history of human genetics

• James V. Neel
• Penrose (PKU, Down syndrome)

Patients and clients seen by physician geneticists

In the United States, recent surveys have shown that about 70% of the patients seen by physicians specializing in genetics are children, their clients include, of course, the paremnts of those children. Almost half of the children seen in practice are newborns or infants, and these are primarily brought to the attention of the physician because of birth defects, including metabolic defects, physical deformities, chromosomal abnormalities and other syndromes. Toddlers, older children and adolescents make up the slight majority of pediatric patients, and include similar diagnoses and presenting problems, along with those children being evaluated for developmental delay.

At this time, abvout 30% of patients seen by physicians specializing in human genetics are adults, and they are most often evaluated as a part of assisted reproduction care or in an evaluation for infertility, or as ongoing care of a metabolic defect, or in consultation for a single-gene adult onset disease such as certain types of cancer or other diseases such as Huntingtons disease (Huntingtons chorea).

References

Cooksey JA. Forte G. Benkendorf J. Blitzer MG. The state of the medical geneticist workforce: findings of the 2003 survey of American Board of Medical Genetics certified geneticists. Genetics in Medicine. 7(6):439-43, 2005 Jul-Aug. UI: 1602497)

Valle D. Harland Sanders Award Statement. Genetics in Medicine. 1(5):219-23, 1999 Jul-Aug. UI: 11256676 (Barton Childs- anoaous genes not "things apart)

External links

American Board of Human Genetics http://genetics.faseb.org/genetics/abmg/abmgmenu.htm Recent statistics of numbers of genetics professionals in the USA: http://www.abmg.org.ezproxy.med.nyu.edu/genetics/abmg/stats-allyears.htm Category health Sciences Workgroup