Consanguineous marriage is a deeply rooted tradition in the Arab world. Such marriages are linked to higher rates of recessive genetic diseases. During the Syrian conflict, which started in 2011, around one million Syrian individuals became refugees in Lebanon. This study assessed the consanguinity rates among Syrian refugees living in Lebanon up to three successive consanguineous generations, and examined refugees’ awareness of the possible consequences of consanguineous marriage and their attitudes towards consanguinity. Their knowledge of, and access to, premarital screening was also assessed. The study was conducted between January and May 2018. Several study sites representing refugees’ distribution within the country were chosen. The study sample included 1008 interviewees from different families. Of those interviewed, 51.9% were in a consanguineous marriage. Interestingly, 23.9% were the product of consanguineous marriages themselves, and 17.9% were consanguineous for three successive generations. The interviewees generally knew about premarital screening, but the majority (61.9%) had not had the screening. The high rates of consanguinity in these Syrian refugees call for immediate action, including raising genetic awareness and providing appropriate genetic counselling. Despite the respondents’ familiarity with premarital screening, there was a low rate of uptake of the test, underscoring the importance of providing better education to these refugees.

Since the discovery in 1989 that mutations in cystic fibrosis transmembrane conductance regulator (CFTR) underlie cystic fibrosis (CF), the most common life shortening genetic disorder in Caucasians, it has been possible to identify heterozygous mutation carriers at risk of having affected children. The Human Genetics Society of Australasia has produced a position statement with recommendations in relation to population-based screening for CF. These include: (1) that screening should be offered to all relatives of people with or carriers of CF (cascade testing) as well as to all couples planning to have children or who are pregnant; (2) the minimum CFTR mutation panel to be tested consists of 17 mutations which are those mutations that are associated with typical CF and occur with a frequency of 0.1% or higher among individuals diagnosed with CF in Australasia; (3) that genetic counselling is offered to all couples where both members are known to have one or two CFTR mutations and that such couples are given the opportunity to meet with a physician with expertise in the management of CF as well as a family/individual affected by the condition.

In twin pregnancy studies, molecular genetic techniques have rarely been used to determine zygosity, despite their known precision and accuracy. The present work aimed to assess the power of discrimination in zygosity assessment, using a set of microsatellite markers that were routinely used for aneuploidy screening by multiplex-PCR in a prenatal context. Rapid aneuploidy screening using a group of 20 microsatellite markers (STRs) located on chromosomes 13, 18, 21 and X has been performed in our lab for over 10 years, with a total of approximately 1,500 samples studied to date. A retrospective analysis of the 257 prenatal samples from multiple pregnancies was carried out. A subset of 14 cases presenting theoretical monozygosity were re-evaluated by the use of biostatistics tools accessed via the ZygProb website. Further monozygosity determination relative to dizygosity was calculated, given an estimated overall error value of 0.093%. The results show that monozygosity had been correctly determined in all our previously studied twins. This work demonstrates that accurate zygosity assessment can be achieved with the same STRs applied in aneuploidy screening with a high power of discrimination and a matching probability of over 99.999999%.

Telegenetics is a new development in the service delivery of Genetic Services in Australia. This project was designed to establish if it was an acceptable alternative to a face-to-face consultation in the genetic assessment of intellectual disability, including morphological assessment, of the patient. Ten children from two outreach clinics in rural NSW who were referred by their pediatrician were assessed by a single geneticist via telehealth and then seen again face-to-face as a ‘gold standard'. Satisfaction surveys were then sent to both the parents and the referring pediatricians. After the face-to-face appointment, the clinical geneticist reviewed the recordings of both the transmitted footage and the high definition footage that was sent separately. There were very few morphological findings missed by the telegenetic assessments. The discrepancies that were noted could decrease in frequency as staff become more familiar with the methods. The parents of the patients reported no problem with the cameras and telehealth. They would have preferred face-to-face appointment but would be happy to have the telehealth appointment if it meant being seen earlier. This pilot study suggests that clinical genetic diagnostic assessment could be performed by telemedicine.

This article provides an empirical account of the application of genetic counselling in China based on interviews, clinical observation and literature research during a field study from September 2008 to February 2009, carried out mainly in China and partly in Hong Kong and the United Kingdom. Making comparisons with the situation in the UK and in Hong Kong, and from a social science perspective, the article outlines the situation of genetic counselling in China, discussing the qualifications for genetic counselling providers, the model of genetic clinical services, and their governance and supervision in Chinese social contexts. The article discusses Chinese practitioners’ understanding of and practice around ethical issues such as non-directiveness, informed choice and decision-making, and explores the extent to which this reflects the administrative, political and socio-economic environments in Chinese society. The article argues that the current state of genetic counselling in China arises mainly from its executive governance, non-professional genetic counselling provision, economic conditions and the lack of full healthcare coverage.

Human interest in and concern about inheritance is very far from new. It is reasonable to assume that ideas about physical resemblances and behavioural characteristics running in families are as old as concepts of family and kinship. We can be rather more certain that from the dawn of agriculture selective breeding has been used to change the characteristics of plant crops and domesticated animals. Indeed, selective breeding may well be viewed as the first step required to create agriculture. However, a knowledge of genetics is not required to apply selective breeding to animals or plants (or humans). All that is needed is the assumption that parental characteristics are likely to be passed to offspring. Then one can breed from superior stock, or those which have desired characteristics, and avoid breeding from inferior stock.