Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.

BACKGROUND: There is a paucity of information available regarding the carrier frequency for autosomal recessive pathogenic variants among Syrian Jews. This report provides data to support carrier screening for a group of autosomal recessive conditions among Syrian Jews based on the population frequency of 40 different pathogenic variants in a cohort of over 3800 individuals with Syrian Jewish ancestry. METHODS: High throughput PCR amplicon sequencing was used to genotype 40 disease-causing variants in 3840 and 5279 individuals of Syrian and Iranian Jewish ancestry, respectively. These data were compared with Ashkenazi Jewish carrier frequencies for the same variants, based on roughly 370,000 Ashkenazi Jewish individuals in the Dor Yeshorim database. RESULTS: Carrier screening identified pathogenic variants shared among Syrian, Iranian, and Ashkenazi Jewish groups. In addition, alleles unique to each group were identified. Importantly, 8.2% of 3401 individuals of mixed Syrian Jewish ancestry were carriers for at least one pathogenic variant. CONCLUSION: The findings of this study support the clinical usefulness of premarital genetic screening for individuals with Syrian Jewish ancestry to reduce the incidence of autosomal recessive disease among persons with Syrian Jewish heritage.

Premarital genetic investigations: effect of genetic counselling.

Over a period of 2 years, 86 couples (172 cases) were referred to the genetics clinic of the National Research Centre for premarital genetic counselling. About 73.25% had a family history of different genetic disorders. Consanguinity was found in 86.04%. Genetic investigations revealed chromosomal abnormalities in 26 cases (15.11%); 23 cases (13.37%) had other abnormal results. After genetic counselling, postconceptional follow-up was carried out for 30 couples; 10 of them required amniocentesis that showed abnormal fetuses in 2 mothers. Other couples had normal offspring. We conclude that premarital genetic counselling is of great use in the detection of genetic disorders and is an essential step in changing attitudes towards premarital testing and reducing consanguineous marriage.

The feasibility of mandatory HIV testing for health professionals and other special populations.

Infection with the human immunodeficiency virus (HIV) has become an increasingly important public health problem. Due to the profound increase in the incidence of the disease, testing has become an important tool in prevention efforts as well as treatment. In view of the dire prognosis associated with the diagnosis of HIV infection, there is a great deal of interest in mandatory HIV testing of special groups. Mandatory testing has been implemented for several groups such as the United States military. However, there are a number of issues to be considered before implementing a mandatory testing program. These include the predictive value and accuracy of the tests themselves, confidentiality and the social ramifications of breaches in confidentiality, the likelihood of forcing high risk persons underground to avoid testing, and the constitutionality of a mandatory testing policy. Since the discovery of the apparent transmission of HIV infection from a dentist to his patients, there has been increasing interest in a policy mandating the testing of health professionals. However, in view of the low risk of transmission to patients, it would be ill-advised to require HIV testing of health care workers. In general, the benefits of a mandatory testing policy do not outweigh the human and financial costs it would engender.

Knowledge and attitudes towards premarital counselling and examination.

Premarital counselling and examination have begun to play a very important role in the management of many genetic disorders. 600 villager's knowledge and attitudes toward premarital counselling and examination in Menofia Governorate was studied in order to predict the community acceptance and behaviour toward utilization of such service. The result showed a big lack in knowledge even among educated respondents about the term. The main source of information was mass media followed by medical personnel who should participate more in this service. Most respondents, except unmarried males, have a favourable attitude toward either premarital counselling and examination or consanguinous marriage. This may be related to certain social changes in village life such as declining illiteracy, increased economic pressures, increase number of nuclear families and accordingly delay in beginning a family. It was unlikely that non-contraceptive users would resort to induced abortion rather to use contraceptive methods. Educational programs should be directed toward: (a) unmarried males so that their attitude toward premarital counselling and examination can be changed to correct direction, (b) unmarried females to make consanginous marriage more undesirable, and (c) non-contraceptive users to make them more intended to use safe contraceptive methods than induced abortion.

PIP: Premarital counseling and examination have begun to play a very important role in the management of many genetic disorders. 600 villagers knowledge and attitudes toward premarital counseling and examination in Menofia Governorate, Egypt was studied in order to predict the community acceptance and behavior toward utilization of such service. The results showed a big lack of knowledge even among educated respondents about the term. The main source of information was mass media followed by medical personnel who should be more involved in this service. Most respondents, except those unmarried males, have a favorable attitude toward both premarital counseling and examination of consanguineous marriage. This may be related to certain social changes in village life such as declining illiteracy, increased economic pressures, increase in the number of nuclear families, and a subsequent delay in beginning a family. It was unlikely that noncontraceptive users would resort to induced abortion instead of contraceptive methods. Educational programs should target: unmarried males so that their attitude towards premarital counseling and examination can be altered to change direction; unmarried females in order to deter them from consanguineous marriage; and noncontraceptive users to make them choose safe contraceptive methods rather than induced abortion.

HIV antibody testing: who benefits and who loses?

From a public health perspective, a significant milestone in the AIDS crisis so far has been the development of serologic tests to detect exposure to the HIV. With AIDS now reported in more than 124 countries and in every state of the Union, with the possibility that in excess of two million Americans have been infected and in the absence of a cure or vaccine, the issue of testing cannot be ignored anymore. Unfortunately, the testing debate has generated more heat than light. This paper examines the proposed "benefit" to public health in testing certain target groups deemed "at risk", and also discusses socio-ethical implications of such testing. The whole question of HIV antibody testing essentially raises the need for a balance between voluntary and mandatory testing; and society's commitment to protect public health as well as safeguard individual civil rights.