SELECTED STUDIES

Community Genetics in 
the 21st Century (Part III)

By Prof. T. I. Farag

In the two previous issues, the Ambassadors Magazine discussed  the penta-axial community genetics "SETRR" model which includes: Service, Education, Teaching, Registry, and Research. To complete this system, it must have a primary objective. This objective is both curative and preventative. With the evolution of computer-operated biotechnology and the birth of the Edinburgh  'RAPID' system, this objective is better materialized.

The evolution of Computer Systems

The first large-scale automatic digital computer was developed during World War II by a Harvard graduate student, Howard H. Aiken and in 1946 came a breakthrough at the University of Pennsylvania where engineers unveiled ENIAC, a computer that used electronic pulses for calculations. In 1963, the so-called third generation computers were born, which relied on the microchip integrated circuit that led to the development to microcomputers (PCs). In 1977, two American scientists launched the first mass market microcomputer - the Apple II. In the late 1980s, the World Wide Web (WWW) internet became accessible on PCs.

The incorporation of advanced computerized techniques for the registry of genetic disorders and their prevention has been established in the USA, UK, Germany and Canada. These registries have helped in the modernization of health care.

The Founders of Medical Genetics and Community Pediatrics

Alongside the adaptation of computer systems to modern healthcare services, the contributions of several key figures have been instrumental to the development of community medicine, pediatrics and genetics. These include Prof. Victor A. McKusick, the father of medical genetics, and Prof. Margaret W. Thompson the mother of medical genetics, whose books and publications are considered key references in all medical colleges. Alongside is the late eminent Scottish pediatrician, Prof. Jim Farquhar, the founder of the first school for community pediatrics with his colleague Prof. John Forfar. Prof. Peter S. Harper, the charismatic Welsh scientist, is recognized as one of the most renowned theorists of genetic counseling today. I was fortunate to have met and learnt from these pioneers.

McKusick, Borgaonkar and Schinzel's Catalogs

In the early 1960s, professor Victor A. McKusick established a catalog of Mendelian Inheritance in Man, which today includes a plethora of autosomal dominant, recessive, and sex-linked disorders in addition to those with mitochondrial inheritance. The 12th edition was published by Johns Hopkins University in 1998 and an online version has since been released (www.ncbi.nlm.nih.gov/Omim/searchomim.html). A few years later a catalog was born for cytogenetic disorders by Prof. Digamber S. Borgaonkar. The 8th edition was published in 1997 by Wiley/Liss. Both Mendelizing gene disorders and chromosomal disorders catalogs, proved to be beneficial for community genetic doctors and counselors. Recently, Prof. Albert Schinzel (University of Zurich) catalogued the unbalanced chromosomal abnormalities in man and published the second edition in 2001.

Prof. Emery's RAPID System and Beyond

In the early 1970s, Edinburgh University's department of human genetics made studies showing that the best scope for the prevention of genetic diseases lies with single gene defect. The ascertainment and follow-up of individuals with mono-genetic disorders can be facilitated by the new genetic register, with the acronym 'RAPID' (Register for the Ascertainment and Prevention of Inherited Disease). 

Professor Alan E.H. Emery and his colleagues Charles Smith and Susan Holloway five-year experience with the RAPID system indicated that such a system would seem to be a feasible inexpensive tool for preventing a significant proportion of serious genetic diseases within the community.

Regional Genetic Registries and Databases 

The great contributions of both Victor A. McKusick and Alan E.H. Emery have challenged scientists to establish regional compilations of genetic disorders. The publication of "Genetic Disorders Among Arab Populations" (Teebi & Farag 1997) marked the first serious attempt to compile the available information collected from the Arab World (pop: 280 million), located from the Atlantic Ocean in the west to the Arabian Gulf in the east. Recently, Prof. Teebi and his colleagues from the University of Toronto published an interesting article about the Arab Genetic Disease Database (AGDDB). This database contains more than 1000 unique entries of disorders that occur in Arab populations which help as a diagnostic tool for physicians and in the development of future population-specific databases. It can be accessed at www.agddb.org . It is noteworthy that Teebi and Farag's (1997) book described 100 new mono-genic syndromes among Arabs while Teebi's database (2002) includes over 200 mostly autosomal recessive due to high inbreeding and large family size. 

Teebi's regional database will challenge scientists in different regions to establish other population-specific genetic registries and databases which will be considered an important element of the SETRR penta-axial community genetics preventive model.

Equity in Health

More than 500 medical doctors and scientists from 35 countries, gathered in the Medical Sciences Building, University of Toronto between June 14-16, 2002 to partake in the second International Society for Equity of Health conference. There were 10 workshop sessions and 40 posters presented. Participants of the conference came from a variety of countries such as Albania, Argentina, Austria, Australia, Bangladesh, Belgium, Brazil, Canada, Chile, China, Cuba, Czech Republic, Ecuador, Finland, France, Italy, India, Georgia, Kazakhstan, Kenya, Mexico, Netherlands, New Zealand, Peru, Philippines, Spain, Sweden, Switzerland, South Africa, Tanzania, Taiwan, Uganda and USA. One of the posters presented was about "Community Healthcare in Cuba", which you can read more about in this Ambassadors issue. For further information on ISEqH, email: centre.ih@utoronto.ca . There is no doubt that community medicine and genetics emphasize the availability of the services to all people -- rural and urban, rich and poor.

Community Genetics in Non-Western Populations

I have gained a lot of experience from my practice in Yemen in the early '60s, as the first pediatrician in the country. I discovered that the community pediatrician has to look at the child, nuclear family, extended family, tribe, region and country. The pediatric activities have to be a part of an integrated service aiming to improve health, education, economic situation, and social conditions of the target population.

HE Prof. Ismail Sallam

The recent implementation of community genetic services in

 upper and lower Egypt and the establishment of four new centers after one-year training of more than 200 doctors, psychologists, social workers and nurses is a remarkable achievement. Also, the establishment of a national system in collaboration with distinguished medical geneticists from the five academic institutions (Ain Shams, Alexandria, Cairo, Mansoura universities and the National Research Center) is very useful. The four new counseling centers are highly equipped with updated computerized registries and databases which will certainly be beneficial in the application of genetic services.

I would like to congratulate both H.E. Prof. M. Awad Tag el-Din, Egyptian minister of health and population, and his predecessor, H.E. Prof. Ismail Sallam for taking the initiative of implementing genetic counseling services in the Ministry of Health units as a part of modernizing the Egyptian medical system.

*NEXT ISSUE*

In the next issue, I will discuss in detail the evolution of healthcare and community medicine in several Arabian/Persian Gulf countries. The study will include an interview with H.E. Dr. Abdel Rahman A. Al-Awadi, BSc (AUB), MD (Aberdeen), MSc (Harvard), FRCP (Edin), former Kuwaiti minister of Health and Planning, elected president of the Arab Board of Ministers of Health and founder/president of the IOMS. From this interview, The Ambassadors Magazine will shed light on the provision of medical services in the gulf area.

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Ahmed S. Teebi, Saeed A. Teebi, Christopher J. Porter & A. Jamie Cuticchia (2002). "Arab Genetic Disease Database (AGDDB): A Population-Specifc Clinical and Mutation Database." Human Mutation, 19: 615-621.

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Rasha N. El-Kharadly, Soha Kholeif, Samia  M. Kotb, Nagwa A. Mohamed, Mamdouh A. El-Ghandour (2001). Assessment of children with Down Syndrome receiving early intervention. Alexandria Journal of Pediatrics 15(1): 13-17.

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T.I. Farag (2002). Community Genetics in the 21st Century. The Ambassadors Magazine, Vol.5, Issue 1 - Selected Studies (www.ambassadors.net/archives/issue11/selected_studies.htm).

T.I. Farag (2001). Community Genetics course for Family Doctors: A novel application in Egypt. The Ambassadors Magazine, Vol.4, Issue 2 - Selected Studies (www.ambassadors.net/archives/issue10/selected_studies.htm).

Victor A. McKusick (1998). Mendelian Inheritance in Man : A Catalog of Human Genes and Genetic Disorders (12th Ed). Baltimore: Johns Hopkins University Press.

Prof. Talaat I. Farag, MD, FRCP(Edin), FACP, FACMG, is a community geneticist and syndromologist. He is the founder of The Ambassadors Research Foundation in 1998. Email: tfarag@is.dal.ca or drfarag@ambassadors.net

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