Genetic counseling

Among the many educational materials produced by the European Society of Human Reproduction and Embryology (ESHRE) are guidelines. ESHRE guidelines may be developed for many reasons but their intent is always to promote best quality practices in reproductive medicine. In an ...

Neurodevelopmental disorders (NDs) encompass a spectrum of neuropsychiatric manifestations. Chromosomal regions 1q21.1, 3q29, 15q11.2, 15q13.3, 16p11.2, 16p13.1 and 22q11 harbour rare but recurrent CNVs that have been uncovered as being important risk factors for several of these disorders. These rearrangements may underlie a broad phenotypical spectrum, ranging from normal development, to learning problems, intellectual disability (ID), epilepsy and psychiatric diseases, such as autism spectrum disorders (ASDs) and schizophrenia (SZ). The highly increased risk of developing neurodevelopmental phenotypes associated with some of these CNVs makes them an unavoidable element in the clinical context in paediatrics, neurology and psychiatry. However, and although finding these risk loci has been the goal of neuropsychiatric genetics for many years, the translation of this recent knowledge into clinical practice has not been trivial. In this article, we will: (1) review the state of the a...

The National Society of Genetic Counselors (NSGC) supports the development of practice recommendations (guidelines) in the field of genetic counseling. This paper reviews the basic components of NSGC genetic counseling practice recommendations as well as the process for formal adoption of such documents, as approved by the Board of Directors of the NSGC.

Hereditary mixed polyposis is a genetically heterogeneous, autosomal dominant condition with adenomatous, hyperplastic and juvenile polyps. We conducted a comprehensive clinical evaluation of a large Ashkenazi Jewish family with this phenotype and performed extensive genetic testing. As seen in one previous report, a 40 kb duplication upstream of GREM1 segregated with the polyposis/colon cancer phenotype in this kindred. Our study confirms the association of GREM1 with mixed polyposis and further defines the phenotype seen with this mutation. This gene should be included in the test panel for all Jewish patients with mixed polyposis and may be considered in any Ashkenazi patient with unexplained hereditary colon cancer when mutations in other hereditary colon cancer genes have been ruled out.

Individuals at increased risk of developing breast cancer due to their family history of the disease face a number of uncertainties. Personal cancer risk estimates are imprecise and current methods for early detection or prevention are not 100% effective. It is therefore not surprising that adverse psychosocial outcomes have been described within this population. Research attempting to predict the incidence of distress and dysfunction in individuals at increased risk of cancer has been largely a-theoretical and has overlooked a number of potentially important predictive variables. In particular, the influence of personal experience of cancer through involvement with affected relatives has been neglected. There are strong theoretical grounds for hypothesising that dimensions of personal experience may influence response to cancer risk. This paper discusses the potential impact of personal experience on risk perception, illness representations and decision-making. Systematic research ...

The practice of genetic counseling is in need of evidence-based theoretical frameworks. Although strategies used in genetic counseling are increasingly evidence-based, the field of genetic counseling does not have a generally accepted theoretical basis for development of therapeutic interventions. We know very little about (1) what actually happens in genetic counseling and (2) the impact it has on clients and their families. A number of researchers have used a variety of approaches in an attempt to introduce some theoretical basis for genetic counseling research and practice. Other workers have used experience in their clinical practice to write theoretically about the kinds of processes that might be going on in and around genetic counseling. However, there are few studies to date, which have attempted to build theory modeling the psychosocial processes that take place in and around the genetic counseling clinic using empirical data. This paper describes a methodology (grounded theory) that is designed specifically to build theory about psychosocial processes from a strong evidence base, and explains how it can contribute to the development of practice in genetic counseling.

Genetic testing has been implemented in clinical practice. However, data on physician's practices and education related to cancer genetics, risk assessment and clinical management in Greece, is limited. In Greece, genetic counseling is performed by treating physicians in collaboration with clinical laboratory geneticists due to the absence of medical geneticists and genetic counsellors. We evaluated treating physicians' experience on genetic testing for hereditary cancer and counseling practices in Greece, thus providing critical areas for improvement of genetic counseling processes. A 28-question survey was used to assess physicians' experience with genetic testing practices, factors that affect their clinical management and decision making and limitations in their education. Of 250 physicians, 208 (83%) completed the survey; of whom 89 (42.8%) were medical oncologists, 88 general surgeons (42.3%), 26 gynecologists (12.5%) and 5 (2.4%) of other specialties. Overall, 91.8% of participants referred patients for genetic testing, with 51.8% recommending multigene panel testing. While most clinicians (84%) reported lack of a clinical genetics department at their institution, 75.7% referred patients for genetic counseling at available departments or healthcare professionals with expertise in genetic counseling. Overall, 68.8% of respondents reported no training or moderate training on cancer genetics. A higher proportion of medical oncologists reported sufficient/very satisfactory training (40.9%) compared to general surgeons (27.3%) or gynecologists (11.5%) (p = 0.012). Time spent on pre-and post-testing sessions varied significantly among respondents. Of 199 physicians, 70% would manage patients with BRCA1 VUS as patients with pathogenic variants, mainly surgeons (83.1%) and gynecologists (80%), compared to oncologists (52.3%) (p < 0.001). Additionally, 64% of physicians treating patients with breast and ovarian cancer would recommend an intervention based on the presence of a BRCA1 VUS. Most respondents (87%) were interested in receiving additional education on cancer risk assessment. Limited consensus was observed during physicians' genetic testing, counseling practices and clinical management of patients with increased predisposition to cancer. Our findings highlight the need for improvement in physician education on cancer risk assessment and increase of genetic counseling resources and services.

The aim of this study is to explore the attitudes of the students of Health Sciences College in Abha, Kingdom of Saudi Arabia (KSA) towards premarital counseling. This study was conducted among the students of Health Sciences Colleges in Abha, KSA, during the 2nd semester of the academic year of 1999-2000. A self-administered questionnaire was distributed to all available students who answered it under the direct supervision of the Heads of Departments. The questionnaire consisted of 3 main parts; the first part was regarding socio-demographic and scientific characteristics, the 2nd part concerned with attitudes towards premarital counseling while the 3rd part explored the preferred items to be included in premarital counseling. Data of the questionnaire were entered and analyzed by statistical package for social sciences. Association between categorical variables were tested by Chi-square test and considered significant if (P-value less than 0.05). One hundred and eighty-six studen...

Genetic testing is becoming ever more prevalent in the post-genome project practice of medicine. Subsequently, genetic testing for disorders lacking any therapeutic interventions is also becoming more prevalent. This article will examine some of the ethical challenges raised by our ability to know but not to cure.

Context: Inbreeding increases the level of homozygotes for autosomal recessive disorders and is the major objective in clinical studies. The prevalence of consanguinity and the degree of inbreeding vary from one population to another depending on ethnicity, religion, culture and geography. Global epidemiological studies have revealed that consanguineous unions have been significantly associated with increased susceptibility to various forms of inherited diseases. Objective: The study aimed to determine the role of consanguinity in human health and to highlight the associated risks for various diseases or disorders. Methods: PubMed and Google Scholar search engines were used to explore the published literature on consanguinity and its associated risks using the key words " consanguinity " , " prevalence " , " inbreeding depression " , " coefficient of inbreeding " , " child health " , " mortality " , " human health " , " homozygosity " and " complex diseases " in different combinations. The studies were screened for eligibility on the basis of their epidemiological relevance. Results: This comprehensive assessment highlights the deleterious consequences in populations with a higher prevalence of consanguinity among different countries worldwide. Conclusions: To avoid the inbreeding load there is the need to improve socioeconomic and educational status and to increase public awareness of reproductive health and anticipated deleterious effects. Premarital and pre-conception counselling of consanguineous populations should be an integral part of health policy to train people and make people aware of its harmful consequences. Furthermore, runs of homozygosity (ROH) and whole-exome sequencing (WES) are useful tools in exploring new genomic signatures for the cause of inbreeding depression.

This study introduces the concept of epistemic brokering in interpreter-mediated medical visits and illustrates how it can be used to effectively convey information between providers and patients/parents. Conversation analysis is used to analyze 24 pediatric genetics consultations (=17.75 h) involving 16 Spanish-speaking families, their various English-speaking healthcare providers, and four on-staff bilingual interpreters. Interpreters-as-epistemic-brokers can aid in the transfer of information between clinicians and patients/parents (i) by (re)designing content to be appropriately fitted to a specific recipient&amp;amp;amp;#39;s understanding, and (ii) by monitoring the ongoing medical visit for moments in which one or more interactants may be in a relatively unknowledgeable position and taking steps to secure common ground. It is posited that epistemically brokering interaction can serve to promote the development of positive relationships with potentially hard-to-reach patients/parents. Although seemingly minor, these moments in interaction contribute to these individuals&amp;amp;amp;#39; overall experience with and understanding of the institution of medicine. Future research is needed to identify the particular strategies associated with effective epistemic brokering. Interpreters and clinicians should be aware of the role that discursive practices play in conveying information in the medical visit, and reconceptualize interpreters as collaborators in this process.