� 2006 Wiley-Liss, Inc. American Journal of Medical Genetics Part A 140A:1644–1646 (2006)

Clinical Report

Genetic Disorders Among Palestinian Arabs. 4:Genetic Clinics in the Community

Joel Zlotogora,1,3* Saleh Barges,2 Bishara Bisharat,2 and Stavit A. Shalev31Department of Genetic Community, Public Health Services, Health Ministry Israel and Hebrew University,

Jerusalem, Israel2Briut Clalit Sick Fund, Nazareth, Israel

3Genetic Center, Haemek Hospital Afula, Afula, Israel

Received 4 December 2005; Accepted 11 May 2006

Genetic disorders are frequent in the Arab population ofIsrael, mainly because of the preference for consanguineousmarriages. Many of the inherited diseases are present with ahigh frequency only in a limited region or a single village. Itis therefore not surprising that, in each of the villages, adifferent distribution of genetic diseases is found; thus, adetailed knowledge of the genetic disorders present in eachvillage is of utmost importance for genetic counseling. As adirect consequence of these observations two communitygenetics clinics were opened as a pilot project to study theirimpact on the population to be served. The use of acomputer database allowed for easier and more accurategenetic counseling. There were almost 1,500 visits in the 4-

year period since the introduction of the services. During theyears an increase in the mean number of consultations perclinic as well as a change in the type of referrals wasobserved. There was an increasing proportion of clinics thatwere made at a time in which genetic counseling allow forprimary prevention. The presence of a genetic counselor inthe village clinic allows for better and closer contacts with thefamily physician. � 2006 Wiley-Liss, Inc.

Key words: Arabs; community genetics; consanguinity;genetic counseling

How to cite this article: Zlotogora J, Barges S, Bisharat B, Shalev SA. 2006. Genetic disorders among PalestinianArabs. 4: Genetic clinics in the community. Am J Med Genet Part A 140A:1644–1646.

INTRODUCTION

Middle Eastern societies, specifically the Arab ruralpopulations, are characterized by close familyrelationship [Klat, 1997]. The preference for marryingrelatives is a deeply rooted cultural trait, and eventhough all religions discourage consanguineousmating, these are very prevalent in the region. In45% of Palestinian Arabs in Israel, the spouses arerelated. More than 20% of them are related as firstcousins [Jaber et al., 1994]. In these societies geneticdisorders are relatively frequent, in particular auto-somal recessive diseases. With the progress inreducing the mortality and morbidity due to infec-tious diseases, malformations and genetic diseasesbecame an important cause of morbidity andmortality among infants and children in thosecommunities.

The Israeli population includes almost 7,000,000citizens, 80% Jews, 15% Muslim Arabs, 5% ChristianArabs and Druze and few other communities[Central Bureau of Statistics, 2004]. Until recently,

the Arab population has been living in small, rela-tively isolated localities, settled by a small number offounders. Since the creation of the State of Israel in1948, there was a huge natural expansion of the Arabpopulation and several larger towns developed.However, since the preference for consanguineousmarriages remains high, the isolation of many com-munities is preserved. In the Israeli Arab populationin general some genetic disorders, such as thalasse-mia, FMF, anddeafness are frequent.Withmost otherinherited diseases the high frequency is specific to aregion or a single village [Zlotogora, 2002]. In each ofthe villages a different distributionof genetic diseasesis found and detailed knowledge of the diseases is of

*Correspondence to: Joel Zlotogora, M.D., Ph.D., Department ofcommunity Genetics, Public Health services, Ministry of Health, Building67, Sheba Medical Center, Ramat Gan, Israel. E-mail: joelz@cc.huji.ac.il

DOI 10.1002/ajmg.a.31342

utmost importance for genetic counseling [Zlotogoraet al., 2000]. As a direct consequence of these ob-servations it was decided to open two communitygenetic clinics in the framework of the Clalit HealthFund as a pilot to study their impact on the popu-lation served.

METHODS

In 2001, two pilot genetic clinics began, one inNazareth, the other in Kafr Kana, 10 km North ofNazareth. The location of the clinics was chosensince it allowed serving the towns and severalsurrounding villages. The relevant medical andgenetic information, as summarized in the files fromthe genetic Unit in Haemek Hospital related toindividuals originating from the villages served bythe clinics, is kept on a laptop computer using familypedigree software (Reunion, Leister Productions,Mechanicsburg, PA). The databases are constantlyupdated as to new diagnoses and expansion of thefamily data. In 10 different databases each for onevillage there are data on more than 8,000 individuals.

Genetic counseling was given in each of the clinicsby the same geneticist, as a rule, twice a month in 4 hrsessions. In the 4-year period since the introductionof the services there have been almost 1,500 visits.The referrals were analyzed in two different groups:the first 1,000 visits representing the first years of thepilot and the last 200 representing its last 3 months(Table I). As a rule the blood tests were taken in thevillage clinic and the laboratory examinationsperformed in the hospital genetic unit.

RESULTS AND DISCUSSION

The experience of genetic counseling in inbredpopulations offers several challenges. Since families

are large often with multiple consanguinity loops, asignificant amount of time is needed in order to drawthe pedigree. In addition, individuals are prone togiving inaccurate data about relationships in theprevious generations [Zlotogora et al., 1998]. Medicaldetails concerning relatives are often seen as privateand therefore mostly unknown to the clinicians.When clinical information is given it is often vague,limited to ‘‘retardation’’ or death of the individual andoften explained to be secondary to external events.For these reasons it was decided to limit the size ofthe pedigree obtained during consultation to includeonly close relatives. During a counseling session, theinformation on family structure was confirmed andas needed completed/corrected. In a second phase,the database was searched for relatives with sig-nificant problems in the extended family. Thisallowed for a more rapid and less stressful processsince the counselors asked general questions about‘‘problems’’ in the family without the need of adetailed review of all the relatives. The summary andthe conclusions for the genetic counseling are doneusing the medical data in the computer withoutrevealing the medical information to the consultants.

During the years we observed an increase in themean number of consultations per clinic and achange in the type of referrals. Initially many of theindividuals referred did not come; in the last year thenumber of ‘‘no-shows’’ was close to zero. Anotherimportant change observed was in the type of refer-rals to the clinics.

Genetic consultations may be classified into twomajor groups: one in which the main purpose is thediagnosis of a possible genetic disorder and thesecond related to reproduction either pregnancy orfertility problems. The consultations for diagnosticpurposes in both periods represented approximately20% of the visits (22.5% and 18.2%). Most of thereferrals were of pregnant women either because ofan indication that was present before the pregnancyor a problem concerning the actual pregnancy.During the years the type of referrals changed andthe proportion of the women referred during apregnancy for a problem already known beforeconception decreased from 36.6% to 26%. Anotherobservation pointing to a similar tendency towardthe use of the clinics for primary prevention was anincrease in the numbers of cases referred eitherbefore marriage (from 5% to 8%) or before preg-nancy (from2.1% to 4%). These observations seem torepresent a real change in the use of the clinics whenmore and more of the referrals are made at a timein which genetic counseling may allow primaryprevention.

One obvious advantage of the implementation ofgenetic clinics in the community is the reduction ofthe travel distances for the patients. This is particu-larly relevant in a society in which many of thewomen do not travel distances alone and their

TABLE I. Referrals to the Clinics, Comparison of the First 1,000to the Last 200 Visits

Referral for First 1,000 Last 200

Disorder 22.2% 18.5%Suspected syndrome 19 16.5Short stature 3.2 2

Pregnancy-previous problems 36.6% 26%Problem in index case or first degree

relative16.1 9

Problem in family 9.2 10.5Consanguinity 11.3 6.5

Pregnancy-current problems 25.3% 30%Maternal age and other 7.1 6Abnormal ultrasound finding in the

pregnancy18.2 24

Fertility problems 7.9% 12.5%Infertility 2.9 7.5Recurrent abortions/miscarriages 5 5

Counseling 8% 12%Pre-marital counseling 5.9 8Pre-conception counseling 2.1 4

GENETIC DISORDERS AMONG PALESTINIAN ARABS. 4 1645

American Journal of Medical Genetics Part A: DOI 10.1002/ajmg.a

husbands are working. However, the most importantadvantage is the close contact of the geneticist withthe family physicians. In the Israeli Arab population,the family physician is central in the life of the villagefor all health-related subjects and for many familyproblems. Most of the families ask the advice of theirfamily physician when there are some difficulties indecisions arising as a result of the genetic counseling.In addition, either the individuals planning to marryor their parents often consult the family physician inparticular before a consanguineous marriage. There-fore, the close contact between the family physicianand the geneticist as a result of the next-door-roomconsultation is important for improved communica-tion and genetic counseling to the family. This closecontact is also important for the integration ofgenetics in to family medicine. With the improve-ment in general health and reduction of environ-mental causes of illnesses in Israel, many of thehealth problems in the Arab population are related toheredity. This often leads the medical personnel tolink consanguinity anddiseases giving thepatient theimpression that he or she is to blame for choice ofmarriage partner. The implementation of a clinicwithin the community and its integration into familymedicine reduced the threshold needed to begin agenetic consultation. A ‘‘routine’’ use of geneticcounseling may then help to reduce the stigmatiza-tion linked to genetic problems.

The increasing understanding of the importance ofgenetics in relation to pregnancy and birth defects,

most probably as a result of the close cooperationbetween geneticists and family physicians is leadingto an increasing numbers of couples referred orasking for a consultation before a pregnancy. Thisallow then enough time to determine to complete, ifneeded, the genetic investigations and tests beforethe pregnancy and allow, when relevant, for earlydiagnosis and even pre-implantation diagnosis forthose families in which abortion is not a possibility.

The favorable experiences implementing thesetwo genetic clinics strengthened our thinking that ininbred populations genetic counseling be madeavailable within the community. We therefore planto increase in the near future the number of clinics inthe Arab population.

REFERENCES

Central Bureau of Statistics. 2004. Statistical Abstracts of Israel.Jerusalem.

Jaber L, Bailey-Wilson JE, Haj-Yehia M, Hermandez J, Shohat M.1994. Consanguineous mating in an Israeli-Arab community.Arch Pediatr Adolesc Med 148:412–415.

Klat M. 1997. Endogamy in the Arab world. In Teebi AS, Farag TI,editors. Genetic disorders among Arab populations. OxfordMonographs on Medical Genetics, No 30. New York, Oxford:Oxford University Press. p 63–80.

Zlotogora J. 2002.Molecular basis of autosomal recessivediseasesamong the Palestinian Arabs. Am J Med Genet 109:176–182.

Zlotogora J, Bisharat B, Barges S. 1998. Can we rely on the familyhistory? Am J Med Genet 77:79–80.

Zlotogora J, Shalev S, Habiballa H, Barges S. 2000. Geneticdisorders among Palestinian Arabs. 3 autosomal recessivedisorders in a single village. Am J Med Genet 92:343–345.

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American Journal of Medical Genetics Part A: DOI 10.1002/ajmg.a