Journal of Community Genetics

The Government of India is presently engaged in the implementation of a prevention and control programme for two major forms of haemoglobinopathies, thalassaemia major and sickle cell disease, with guidelines for their prevention and management formulated under the National Health Mission. Based on projections for the population up to the year 2026, the annual blood requirement for treatment will increase to 9.24 million units, together with an 86% increase in budgetary requirements which then would account for over 19% of the current National Health Budget...

The Iowa Newborn Screening (NBS) Program began screening for very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) in 2003. Untreated VLCAD can lead to liver failure, heart failure, and death. Current confirmatory testing recommendations by the American College of Medical Genetics (ACMG) for VLCAD list molecular and functional analysis (i.e., fibroblast fatty acid oxidation probe) as optional. This can lead to misclassification of VLCAD carriers as false positives. Iowa implemented a comprehensive VLCAD confirmatory testing algorithm at the beginning of 2016 that included both molecular and fibroblast analysis...

Precision medicine initiatives, such as Cancer Breakthrough 2020, promise to improve cancer outcomes by tailoring treatment to an individual's genes, environment, and lifestyle. This promise will fall short unless researchers successfully engage diverse communities, including those with histories of medical and research abuse. We examined a rural Alaska Native community's viewpoints about biospecimen collection and storage; interest and recall in reporting family health history; and interest and engagement in biospecimen collection for conducting a genetic test for cancer...

Next-generation sequencing (NGS) provides diagnostic information for many rare conditions. The evolution of NGS for panel, exome, and genome testing is set to be the platform for transforming genomic diagnosis in the National Health Service (NHS). Inherited retinal dystrophies (IRDs) are a highly genetically heterogeneous disease group causing progressive visual impairment. IRDs are ideal for an NGS panel approach due to phenotypic overlap and were one of the first diagnostic panels to be developed in the NHS...

Genetic testing is becoming more prevalent in detecting risk and guiding cancer treatment in our increasingly personalized medicine model. However, few studies have examined underserved populations' perceptions of genetic testing, especially those of rural dwelling populations. We asked residents of three rural communities to complete a self-administered survey gauging their knowledge, attitudes, and perceived barriers for genetic testing. 64.8% of participants of the overall study completed the survey. Most participants were aware of genetic testing for cancer screening (69...

Genetic counseling services are increasing in demand and limited in access due to barriers such as lack of professional genetic counselors, vast geographic distances, and physical hurdles. This research focuses on an alternative mode of delivery for genetic counseling in Sweden, in order to overcome some of the mentioned barriers. The aim of this study is to identify factors that influence the implementation and use of telegenetic counseling in clinical practice, according to health care professionals in Southeast Sweden...

The success of biobanking research relies on the willingness of the public to provide biological and sociological information, donate tissue samples, and complete psychosocial questionnaires. Medical advances made through biobanking research have limited reach if tissues are not obtained from a diverse sample of individuals. Within, we describe the process of transitioning a small group of Hispanic community members who met regularly into a more formal Hispanic Community Advisory Board (HCAB) for the Genotype-Tissue Expression (GTEx) project...

Birth defects (BDs) are structural or functional anomalies, sporadic or hereditary, of prenatal origin. Public health surveillance is defined as the ongoing systematic collection, analysis, and interpretation of outcome-specific data for use in the planning, implementation, and evaluation of public health practice. BD surveillance systems may have different characteristics according to design, coverage, type of surveillance, case ascertainment, case definition, BD description, maximum age of diagnosis, pregnancy outcomes, coding systems, and the location of the coding process (central or local)...

Parents of children who undergo clinical genetic testing have significant informational and emotional support needs at different stages of the testing process. We analyzed parent views about use of both the internet and social media to help meet these needs. We interviewed 20 parents of children who underwent clinical genetic testing and analyzed transcripts to identify themes related to internet and social media use. Parents described using the internet to search for information at three stages of the genetic testing process: before testing, pending results return, and after results return...

Cultural competence is increasingly viewed as key for the inclusion of diverse populations in precision medicine research (PMR) in the USA. Precision medicine researchers and personnel are thus increasingly expected to undergo cultural competency trainings and to engage with relevant racial/ethnic communities to ensure that all research components are culturally and linguistically sensitive to these communities. However, the need for PMR enterprises to ensure competence with and understanding of disability rights, history, and needs (hereinafter disability culture competency) have not received attention...

In the era of personalized and genomic medicine, awareness of patients with rare diseases is increasing as new approaches to diagnosis and treatment are developed. This study examined perceived barriers experienced by families with rare diseases and explored possible differences between participants in Malaysia and California, USA. The study involved N = 108 participants recruited in genetics clinic appointments at the University of Malaya Medical Center and three sites in Southern California. Participants completed a survey involving multiple choice and Likert scale items pertaining to perceived barriers to access genetics-related healthcare...

To determine the association of consanguinity with the occurrence of genetically transmitted eye diseases in rural and urban populations in Pavagada and Madhugiri taluks, Karnataka state, south India. This study was part of a population based cross-sectional prevalence survey, "The Pavagada pediatric eye disease study 2." As a part of the demographic data, trained investigators collected information on consanguinity from the parents of children identified for the study. The children underwent visual acuity measurements and were examined by an ophthalmologist...

Universal screening of all newly diagnosed colorectal cancer tumors can identify individuals at high risk for Lynch syndrome (LS), a hereditary cancer syndrome predisposing carriers to increased risk of colorectal, endometrial, and other cancers. To inform planning of a universal tumor screening program for LS in our jurisdiction, we undertook online surveys of Canadian pathologists and genetic counselors to describe existing tumor screening programs. Online surveys were hosted on SurveyMonkey between October 2016 and March 2017...

More than 80% of people with hearing loss (HL) live in low- and middle-income countries. Up to 90% of deaf children are born to hearing parents, leading to novel parenting, communication, educational, and psychosocial experiences. Half of congenital pre-lingual HL is genetic, with a relatively high recurrence risk that may lead to specific challenges for parents of affected children. Currently, little is known of genes implicated and causative mutations for most populations who have HL in Sub-Saharan Africa, as well as genetic counseling services needs for this population...

Huntington's disease (HD) is a predominantly adult-onset, genetic, neurodegenerative condition. Children of affected individuals have a 50% risk of inheriting HD and often assume caregiving roles for their parent. Studies specifically focused on HD young caregivers have proposed that the genetic risk component of HD "exacerbates" the caregiving experience and identified common responsibilities, burdens, and support needs, but none have explored the relationship between the caregiving role and perception of genetic risk...

Multigene panel testing is mainly used to improve identification of genetic causes in families with characteristics fitting multiple possible cancer syndromes. This technique may yield uncertainty, for example when variants of unknown significance are identified. This study explores counsellors' and counselees' experiences with uncertainty, and how they discuss uncertainties and decide about multigene panel testing. Six focus groups were conducted including 38 counsellors. Twelve counselees who had received genetic counselling about a multigene panel test were interviewed...

Genetics is increasingly becoming a part of modern medical practice. How people think about genetics' use in medicine and their daily lives is therefore essential. Earlier studies indicated mixed attitudes about genetics. However, this might be changing. Using the preferred reporting items for systematic reviews and meta-analyses (PRISMA) as a guideline, we initially reviewed 442 articles that looked at awareness, attitudes, knowledge, and perception of risks among the general and targeted recruitment populations...

The published online version contains the following errors: On the cover page "JRC Management Committee" - should be corrected to JRC-EUROCAT Management Committee. In the authors list under the title, same as above, "JRC Management Committee" should be corrected to JRC-EUROCAT Management Committee.

Sickle cell disease is one of the most prevalent genetic diseases in the world. Improvements in care have enabled those affected to experience an improved quality of life, with many affected persons now reaching reproductive age. However, pregnancy poses significant risks for women with the disease and this may affect their reproductive decisions. We conducted an integrative review of the published relevant scientific evidence to ascertain the factors that may influence these women with their reproductive decisions...

No abstract text is available yet for this article.