Ethical challenges in teaching genetics for medical students.

Although inclusion of ethics as a study course in medical students' curricula is a common practice, special approaches in teaching ethics in the context of genetics should be considered. In the realm of genomics, there are several ethically sensitive topics such as diagnosis of genetic diseases, in vitro fertilization, and identification of genetic susceptibility to common diseases. In addition, in communication with the general public, genetic terms should be used with caution. Demonstration of the phenotypes of affected individuals should be regarded as a particular aspect of teaching genetics. In a description of a patient's phenotype, not only is it necessary to provide scientifically precise characteristics of a patient; voice timbre, facial expression, and body language should also be carefully controlled. Furthermore, in medicine, the theory-practice gap is a problematic aspect, and students often find it difficult to apply knowledge on ethical issues to real situations in clinics. For this purpose, clinical cases are presented during classes and their analysis requires a very respectful attitude on the part of both students and lecturers. For many genetic diseases, evaluation of minor anomalies such as a curved fifth finger, low situated ears, or missing of some teeth is required. Some minor anomalies are found in healthy individuals too, and interpretation of such features must therefore be considered carefully. This article describes our experiences in teaching genetics at Riga Stradins University, ethical problems faced while teaching genetics, and their solutions.

BCL3 gene role in facial morphology.

BACKGROUND: Cleft lip (CL) with or without palate (CLP) and isolated cleft palate (CP) are etiologically complex diseases with interactions among various environmental and genetic factors. The aim of the current study was to identify association with genetic markers and phenotypic craniofacial data in patients with CL/CLP/CP parents. METHODS: Posteroanterior and lateral digital radiographs of the cranium were obtained from 74 parents of patients with CL/CLP/CP. One hundred seventy-three patients with CL/CLP/CP and 190 controls were enrolled in the study for the association test. Five genetic markers of the IRF6 gene and 14 markers of the 19q13 locus were genotyped. Linear regression analysis was performed for the relationship of cephalometric measurements with genotype data adjusted for age, gender, and cleft type. Chi-square and transmission disequilibrium tests were performed to evaluate differences in alleles of the BCL3 gene. Positive findings were replicated in an independent sample (n = 95) of patients with CL/CLP/CP parents. RESULTS: Genetic markers of the BCL3 gene at 19q13, rs7257231, and rs1979377 in the familial association test and rs10401176 in the case-control association test, were associated with craniofacial phenotype. Carriers of BCL3 allele rs7257231T had longer posterior cranial bases than noncarriers (p(adjusted) = 0.0028), and in the familial-based association test showed the statistically strongest relationship (p(adjusted) = 0.05) to phenotype. Relation of rs7257231 to facial formation was confirmed in the replication group (p = 0.0024). CONCLUSIONS: The results indicate that BCL3, which has functions related to cell adhesion and whose downregulation can cause disruption of ectodermal development, is likely to be important in facial formation. Birth Defects Research (Part A), 2012.

Craniofacial morphology in parents of cleft children and healthy individuals.

UNLABELLED: Craniofacial morphology with respect to orofacial clefts has been widely studied. Objective of this study was to determine distinct craniofacial parameters in parents who have cleft children. MATERIALS AND METHODS: Craniofacial anthropometric measurements (total) have been studied in 57 cleft fathers, 67 cleft mothers, 39 control males, and 38 control females. All parameters were compared between cleft parents and control (for males and females separately). RESULTS: Statistical analysis showed significant differences (p<0.05) between the cleft parents and the controls for 18 measurements characterizing head, face, orbital, nasal, and oral region. CONCLUSIONS: Results of this study suggest that craniofacial morphology in parents of children with clefts is distinctive from that observed in healthy individuals in Latvia population. Such data could be used in evaluation persons at risk for having cleft child, and also to define an anthropometric evaluation system for parents who have cleft children. Grant: Taiwan-Baltic joint research project "Identification of Genes Involved in Craniofacial Morphogenesis and Susceptibility to Orofacial Clefting in Human Genome Scan".