SELECTED STUDIES
SELECTED STUDIES
Community Genetics course for Family Doctors:
A novel application in Egypt
By Prof.
Talaat I. Farag MD, FRCP(Edin), FACP
Dalhousie Univ., Halifax, NS, Canada
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It is well known that there is a definite change in the disease profile in developing countries and emerging populations with marked diminution of infectious, parasitic diseases and nutritional deficiencies. There is increasing interest in studying preventive techniques to eradicate genetic problems, major congenital anomalies and mental retardation. In Western societies, around 10% of the population complain of what is called, "modern diseases." This group includes psychiatric disorders, essential hypertension, ischaemic heart disease, peptic ulcer, cancer, major congenital anomalies, diabetes mellitus, asthma etc.
In 1992, Prof. Modell published a stimulating study entitled, "The need for a service in community genetics." Unfortunately, there is no book on methodology of community genetics. Hence, there is an utmost need for developing a scientific basis to community genetics based on screening populations to know the genetic epidemiology and to have a better understanding of the local culture. This will help to look for appropriate approaches that can or cannot be accomplished by this culture. For example, the ASHG 2001 conference has dedicated a special plenary session to the genetics of isolates. It is well known that genetic isolation can occur as result of either geographical, political or religious isolation. Studies among the Amish populations documented and published by Prof. Victor A. McKusick have showed a characteristic disease profile with a greater proportion of autosomal recessive disorders and new syndromes. Researchers in the Arab countries published their data from their respective communities demonstrating a a similar pattern to that reported by McKusick (Teebi & Farag, 1997).
Prof Ismail Sallam's (Egyptian Minister of Health and Population) kind invitation for me to participate in 120-hrs of extensive courses held in May 2001 for more than 150 family doctors in four Egyptian provinces (Cairo, Alexandria, Al-Bahaira and Al-Monofia) was extremely challenging. The courses focused on three problems: mental retardation, major congenital anomalies, and genetic disorders. The courses discussed the seven approaches to handle each of these problems including: premarital counseling, pre-conceptional counseling, prenatal diagnosis, natal care, neonatal diagnosis, infants-adulthood care, and late onset diseases. Twenty-five professors and senior consultants participated in this course by presenting lectures, seminars, workshops and case presentations. The doctors were extremely enthusiastic.
My journey to Egypt
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My friend, Prof. Mokhtar Gomaa, the former Dean of Al-Azhar Medical College (Cairo), is convinced that "building a hospital takes months but building an efficient doctor takes years." As one of the pioneer scientists who focuses on continuous education and practical training for medical doctors, his approach was inspired by the highly impressive modernization programs implemented by H.E. Prof. Sallam (MD, PhD, FRCS, FACS). Prof. Sallam's term has seen many successful ventures including: a) the decentralization of medical services, b) the establishment of well-equipped hospitals in different provinces, c) improvement in national health service, d) construction of modern emergency services, e) and the introduction of successful specialized campaigns such as anti-smoking, immunization, rehydration, family planning, breast-feeding, prevention of accidents, bilharziasis, and "Healthy Mother-Healthy Child". This development is built on educating medical staff and keeping them abreast of the latest developments in their respective fields. To ensure this, Prof. Sallam has established a series of 4-year training courses for doctors to acquire board membership in medicine and pediatrics. A new system is also currently underway in Egypt to introduce family medicine in rural and urban regions of the country. Prof. Sallam's new project on community genetics was specially directed towards this new group of family doctors following the promising results of introducing biochemical neonatal screening for congenital hypothyroidism and phenylketonuria to prevent mental retardation.
The Birth of Community Medicine
 Prof. Magdy El- Deeb, right, (Orthopedics), first rural doctor in Al-Mufti village |
Pin-pointing a specific moment for the establishment of community medicine, pediatrics and genetics is not possible. In the 1960s, I was lucky to know Profs. Anwar Al-Mufti and Al-Nabawi El-Mohandis (Egypt) who introduced rural health centers in Egyptian villages in the 1960s (each unit serving 10,000 people per village). Prof. Al-Mufti went to a small village named Sahally (now Anwar Al-Mufti village) near Alexandria to establish the first of these clinics. During my recent visit to this clinic at Al-Behera province, I found that the rural people still remember the effort done to establish this clinic and the first rural doctor there, four decades ago.
In the 1970s, I was lucky to be in Edinburgh and to attend the delivery of the first school of community pediatrics (Profs. Jim Farquhar and John Forfar) and the establishment of the Edinburgh Down Syndrome Society (Prof. John A. Raeburn). From my experience as a community pediatrician and geneticist in Egypt, Yemen, Libya and Kuwait in addition to my visits to different medical centers in UK, USA, Canada, Italy and Spain I will attempt to present you with the key models in this field.
Principles, Philosophy & Practice of Community Genetics
Herein, I will discuss the principles, philosophy and practice of community genetics based on my 25 years of experience in this field. Readers are advised to visit the Ambassadors Magazine archives about the journey of three international geneticists with major contributions. Prof. V.A. McKusick (Johns Hopkins), the father of medical genetics and author of the encyclopedia for monogenic disorders with 12 editions to date. Prof. Clarke Fraser (McGill), the father of teratology and Prof. D.S. Borgaonker (Delware), the author of the encyclopedia of chromosomal disorders in man (5 editions) It is also important to read the journey of Prof. Mohsen Hazmi (Saudi Arabia) who is a pioneer in regional education. These four articles observe their contribution in chromosomal, monogenic, and teratogenic diseases as well as the importance of both mass public education and continuous practical training for medical personnel (doctors, nurses, and social workers).
In 1998, Chase et al published their data about the North Cumbria genetics project which aimed to establish a store of DNA, plasma and viable cells from around 8,000 infants for genetic and epidemiological studies investigating the interaction between genes, the environment, and health. In 1991, Turner et al published their data about cystic fibrosis screening and community genetics.
In the UK, clinical genetics services are provided by regional unit as a part of the national health service by consultant clinical geneticists and genetic nurses (Skirten, 1998). Since cystic fibrosis represents a major problem there (incidence 1/2000), there have been community genetics projects that focus primarily on cystic fibrosis (Turner et al, 1991).
In the British system, the rural doctor must not only know the essentials of family medicine but must also be the local emergency, physician, obstetrician and geriatrician. He or she has to look after patients in the community hospital alongside running a busy office. Some rural doctors enjoy their work immensely and have accomplished great success, hence it is both demanding and rewarding. Community doctors includes now family doctors who are working both in the rural and urban areas.
It seems that community genetics should follow my penta-axial model which includes:
a) Service - We have to know the epidemiology of genetic disorders in the area and to have a liaison with with different consultants and healthcare authorities to ensure the delivery of appropriate services. The key figure here is a high-caliber clinical geneticists who is connected to a well-equipped genetics center with all facilities of cytogenetics, biochemical genetics, immunogenetics, molecular genetics etc.
b) Mass Education - Directed towards the public and school students
c) Training & Teaching - Within the medical profession
d) Registry - Regularly updated databases
e) Research - These studies have clear objectives to investigate genetic problems in the community and help generate preventive models.
In developing countries, the model has to be more SERVICE-oriented, and not RESEARCH-oriented. The community geneticist should not be a "gene-hunter" or to focus only on new syndromes, but to look to the community in general and help in establishing preventive genetics approaches and minimize the hazards of "evil" genes. The community geneticist has to establish a multidisciplinary TEAM (Together Everyone Achieves More). The team has to include a clinical geneticist, a genetic nurse and a genetic social worker. The genetic nurse collects information and arranges relevant tests and explain complex genetic information to the patients and deal sensitively and responsibly with human responses.
The community geneticist must be immersed in the local culture, understand the traditions and values in order to accept the indigenous beliefs. For instance, among Arabs, artificial insemination, adoption, are not practiced while most disapprove of selective therapeutic abortion. Some western geneticists assume that there little indication to induce abortion to in conditions that lead to intra-uterine death.
The community geneticist offers genetic counseling which has to be non-directive: The counselor has to offer information and counselee takes the decision. Genetic counseling has to be both informative and supportive.
The community geneticist has to establish support groups and to ensure the presence of appropriate follow-up to their counselees.
The community geneticist has to consider ways to incorporate family doctors as members in the team and to work under his/her supervision. This process will require theoretical and practical training.
The Egyptian course for family doctors
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I enjoyed participating in these workshops and seminars which discussed both genetic and non-genetic disorders which can lead to mental retardation or major congenital anomalies Dr. Azza Al-Husseiny (Under-secretary of the Ministry of Health and Population for Training) opened the first session in Nasser Medical Institute (Cairo) and the first speaker was Prof. Wagida Anwar from the community medicine department (Ain Shams Univ.) and guest speaker was Dr. Sadika Al-Awadi (Kuwait) who described her experience with Down Syndrome. I was delighted to have participated in the following seminars and workshops:
Environmental Medicine: Prof. Wagida Anwar (teratogens, mutagens and carcinogens) and Dr. Mohammed Fakhir Hassan (lead poisoning)
Biochemical Genetics: Dr. Ibrahim El--Nekhaly, Dr. Nadia Miharram and Dr. Randa Kamal (Neonatal screening), Dr. Hisham Kandil (Familial hypercholestrolemia)
Genodermatosis: Prof. Ehab El-Mansy (former-dean Alexandria Medical college) and Gen. Mahmoud El-Banna.
Down Syndrome and Chromosomal Disorders: Prof. Suzanne Ismail, Prof. Bayoumi Gharib, Prof. Samia Kotb, Prof. Nadia Halim, Dr. Soha Kholeif and Dr. Rasha El-Kharadly.
Genetic Counseling: Prof. Suzanne Ismail, Prof Samia Kotb, and Dr. Abla Al-Alfi
Developmental Pediatrics: Prof Emad Eid and Dr. Rashid M. Rashid.
Orthopedic Genetics: Prof. M.K. Booz.
Fanconi Anemia: Dr. N. Rohi
Family Doctors & Community Genetics: Dr. Rajab Manna
Mother and Child health: Dr. Khaled Nasr
Bilharziasis: Dr. Alif and Dr. Sami
In addition to the seminars and workshops listed above, there were lectures about the spectrum of human diseases, genetic disorders among Arab populations, principles, philosophy and practice of community genetics, social and ethical considerations, and the role of family doctors in community genetic programs.
Personal Observations
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During my scientific visit to Egypt in May 2001, I was pleased to learn that there is a marked drop in the incidence of polio and prevalence of bilharziasis. In Munofia province, bilharziasis prevalence has dropped to less than 2% of the population (personal communication with Dr. Alif & Dr. Sami).
I also felt very optimistic about the future of this new discipline for the following reasons:
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It was nice to know that there is a committee for the the study of genetic diseases in the Arab League headed by Prof. Khalil Abdelkhalek (Cairo) and that there is a new journal entitled the Egyptian Journal of Medical and Human Genetics (Edited by Prof. Rabah Shawky).
The Egyptian geneticists have published five books in medical genetics authored by Omar A. Alfi, Samia Temtamy, Suzanne R. Ismail, Ikram Abdelsallam and Nadia Halim.
Dr. Azza Al-Hussaini, the under secretary of the ministry of health and population (Egypt) informed me that several training courses in medical genetics were held in Cairo in collaboration with university professors.
Dr. Esmat Mansour, Dr. Ibrahim El-Nekhaly and their colleagues are doing an excellent job in the neo-natal screening program for congenital hypothyroidism and PKU.
Prof. Suzanne R. Ismail, the founder of medical genetics in Alexandria, has to be congratulated along with her team, for establishing a non-profitable organization for genetic counseling and to help those with special needs.
Prof. Bayoumi Gharib, the chairman of the neuro-pediatric society is doing a lot of work with his colleagues in the field of mental retardation. They are receiving excellent support from several organizations working in this field, such as CARITAS.
Prof. Wagida Anwar's excellent lecture was very useful to advocate for a healthy environment and preventive genetics.
Dr. Mahmoud Al-Damaty, director of Abu-Eer Hospital and his colleagues are producing excellent epidemiological surveys.
The presence and usage of computers in rural clinics is a very good sign of modernization of services in Egypt.
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I feel there is an utmost need for ongoing support to sustain the gains made in this initial training in Egypt whose pioneer professors of medical genetics in Cairo, Ain Shams, Alexandria, Mansoura, and National Research Center have an excellent international reputation. In the next issue, I will discuss in detail the role of family doctors in community genetics programs, the guidelines and how to be active members in the community genetics teams. My thanks to all colleagues for giving me the honor to participate in this truly exceptional and unique course. I also forward my best wishes to all those who attended the course as I benefited tremendously from their contribution. Special thanks to Dr. Rajab Manna, the coordinator of human resources & training for the ministry of health and population, for his administrative efforts.
Further Readings
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.
AS. Ramalho & RB Silva (2000). Community Genetics: A new discipline and its application in Brazil. Cad-Saude-Publica. 16: 261
AA Elfituri et al. (1999) Role of health education programs within the Libyan community. EMHJ 5: 268
DS Chase et al. (1998) The North Cumbria community genetics project. J-Med-Genet, 35: 413.
H Skirten et al (1998). Recommendations for education and training of genetic nurses and counselors in the U.K. J-Med-Genet 35: 410
AS Teebi & TI Farag. (1997) Genetic disorders among Arab populations. New York: OUP
Editorial (1995) Egypt triumph with oral rehydration. Brit-M-J 291: 1249
B. Modell (1992). The need for a service in community genetics. Birth Defects Original Article Series 28: 131.
E Anionwu (1991) Teaching community genetics. Nursing, 4:37
G. Turner et al. (1991) Cystic fibrosis screening and community genetics. J-Med-Genet 28: 575
M Modell et al (1991) Community Genetic services in Europe. WHO Regional Office for Europe. Public Health in Europe Series.
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