Journal of Community Genetics
Dados do Periódico
| Tipo | JOURNAL |
|---|---|
| Editora | Springer Science and Business Media Deutschland GmbH (DE) |
| ISSN | 1868-310X / 1868-6001 |
| Scopus | 19600166304 |
| OpenAlex | S57846568 |
| MAG | 57846568 |
| Site | https://link.springer.com/journal/12687 |
| Total de publicações | 530 |
| Período coberto | 2010 - 2022 |
| País | DE |
| Idioma | EN |
| Indexação | Scopus |
| Citada por | 2 |
| Fator de impacto | 0.162 |
| SJR | 0.589 (Q2) |
| SNIP | 0.894 |
| CiteScore | 3.1 |
| Índice h | 1 |
| Citações em políticas (Overton) | 1 |
| Participação feminina na autoria | 64.8% |
This journal focuses on community genetics, including public health genetics and some ethical/social aspects. While STS and medical anthropology can engage with genetics, the journal's primary orientation is biomedical and public health, placing it as a broader social science
Public Health, Environmental and Occupational Health · Epidemiology · Genetics (clinical) · Autism Spectrum Disorder Research · Biomedical Ethics and Regulation · BRCA gene mutations in cancer · Cancer Genomics and Diagnostics · Child Nutrition and Water Access · CRISPR and Genetic Engineering · Cystic Fibrosis Research Advances
Interest in genetic testing and risk-reducing behavioral changes
Sickle cell disease-related knowledge and perceptions of traditional healers in tribal communities in India
Parents’ perspectives on the use of children’s facial images for research and diagnosis
Genetic screening of relatives of decedents experiencing sudden unexpected death
Knowledge and awareness of sickle cell disease
Sickle cell disease is a genetic disorder characterised by the tendency of haemoglobin to polymerise and deform red blood cells to a sickle or crescent shape; this consequently results in vaso-occlusive condition. A better knowledge and awareness about sickle cell disease amongst the population can help reduce its prevalence. This study aimed at assessing awareness and knowledge of unmarried adults in Nigeria's capital. A cross sectional survey w…
Genes, exposures, and interactions on preterm birth risk
Insight into how patients with prostate cancer interpret and communicate genetic test results
Short Communication
Multisite assessment of the impact of a prenatal testing educational App on patient knowledge and preparedness for prenatal testing decision making
In this study, we wanted to assess the impact of the use of a patient educational app on patient knowledge about noninvasive prenatal testing (NIPT) and preparedness for prenatal screening decision-making. A randomized control study was carried out at three international sites between January 2019 and October 2020. Study participants completed a pre-consultation survey and post-consultation survey to assess knowledge, satisfaction, and preparedne…
Carrier detection probabilities for autosomal recessive variants in unrelated and consanguineous couples — an evaluation of the 86 genes of the ACMG ‘Tier 3’ panel
Carrier screening for autosomal recessive variants has become a cornerstone of community and public health genetics. While the first carrier screening programs were confined to conditions with relatively high prevalence, and hence well-known carrier frequency, the number of candidate genes has increased greatly since the advent of high-throughput DNA sequencing technologies. The epidemiological database of the ensuing gene panels is mostly sparse…
Cancer patients’ understandings of genetic variants of uncertain significance in clinical care
Comparing the attitudes of physicians and non-physicians toward communicating a patient’s BRCA1 mutation to a first-degree relative against a patient’s wishes
Attitudes and interest in incorporating BRCA1/2 cancer susceptibility testing into reproductive carrier screening for Ashkenazi Jewish men and women
Parenthood among individuals with Turner syndrome
Families with complex needs
Complex health needs are demanding and often require additional medical, psychological and social support. All those involved (e.g., patients, carers, professionals) face a unique set of challenges and needs, especially in families where the patient is a child or a young person with a lifelong condition. The aim of the study was to explore carers' and young people's needs when living with long term conditions, as well as the views of the healthca…
Qf-PCR
Communicating the diagnosis of Klinefelter syndrome to children and adolescents
Klinefelter syndrome (KS) is the most frequent sex chromosome aneuploidy in males. KS diagnosis disclosure has an important impact on diagnosis acceptance and the increase in prenatal diagnostic procedures raises questions regarding communication to children/adolescents. Limited data are currently available on this issue. The aim of the study was to investigate aspects like the best timing (when), topics (how), and healthcare professional (who), …
Increased family history documentation in internal medicine resident continuity clinic at a community hospital through resident-led structured genetic education program
Psychiatric symptoms in a Spanish sample with hereditary cancer risk
Peripheral health workers’ knowledge and experience related to sickle cell disease
Simulating the Genetics Clinic of the Future — whether undergoing whole-genome sequencing shapes professional attitudes
Whole-genome sequencing (WGS) can provide valuable health insight for research participants or patients. Opportunities to be sequenced are increasing as direct-to-consumer (DTC) testing becomes more prevalent, but it is still fairly unusual to have been sequenced. We offered WGS to fourteen professionals with pre-existing familiarity with an interest in human genetics - healthcare, science, policy and art. Participants received a hard drive conta…
The haematology of Jamaicans
Mothers’ knowledge and attitudes about newborn screening in Jordan
Colorectal Cancer Survivors’ Receptivity toward Genomic Testing and Targeted Use of Non-Steroidal Anti-Inflammatory Drugs to Prevent Cancer Recurrence
Beliefs on the causes of birth defects as perceived by mothers of children with birth defects in a tertiary care hospital in the Philippines
How obedience of marriage rules may counteract genetic drift
Commentary
Autosomal recessive disease in children of consanguineous parents
This short communication deals with the questions of how to calculate the expected proportion of compound heterozygous patients among affected offspring of consanguineous parents, and how, from an observed proportion of compound heterozygotes, to calculate both the proportion of homozygotes not identical by descent and the frequency of pathogenic alleles in the population. This estimate of allele frequency may be useful when dealing with populati…
Community genetics. Its definition 2010
This paper presents a definition of the medical field of community genetics. It starts with a brief historical overview, defines the requirements for an adequate definition, presents the definition, and discusses the constituent parts of the definition
The importance and value of EQA for diagnostic genetic laboratories
Assessing the risks and benefits of diagnosing genetic conditions with variable phenotypes through population screening
The journal of community genetics
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Scope of definitions of genetic testing
Genetic variants at the Apoe, lipoprotein lipase (LpL), cholesteryl ester transfer protein (Cetp), and endothelial nitric oxide (eNOS) genes and coronary artery disease (CAD)
Updating and refining a study brochure for a cancer registry-based study of BRCA mutations among young African American breast cancer patients
Developing and evaluating a culturally appropriate genetic service for consanguineous South Asian families
General practitioner management of genetic aspects of a cardiac disease
It is increasingly recognised that genetics will have to be integrated into all parts of primary health care. Previous research has demonstrated that involvement and confidence in genetics varies amongst primary care providers. We aimed to analyse perceptions of primary care providers regarding responsibility for genetic tasks and factors affecting those perceptions. Postal questionnaire including a hypothetical case management scenario of a card…
Hereditary thrombophilic risk factors for recurrent pregnancy loss
Breast and ovarian cancer risk evaluation in families with a disease-causing mutation in BRCA1/2
Alox5AP gene variants show differential association with coronary artery disease in different populations
Genetic diversity of hemoglobinopathies, G6PD deficiency, and ABO and Rhesus blood groups in two isolates of a primitive Kharia Tribe in Sundargarh District of Northwestern Orissa, India
Enhancing recruitment of African-American families into genetic research
Prospective experience with contingent screening strategy for Down syndrome in Estonia
A reply to community genetics
Community genetics
In recent years, public health genomics has been introduced in the scientific literature as a new endeavour, aiming at the translation of genome-based knowledge and technologies into health interventions and public policies for the benefit of public health (Brand and Brand 2006; Zimmern and Stewart 2006; Gwinn and Khoury 2006). In 2009, Public Health Genomics started to appear as an international journal and a new signpost of the emerging field; …
Using a community of practice to develop standards of practice and education for genetic counsellors in Europe
Points to consider in assessing and appraising predictive genetic tests
The use of predictive genetic tests is expanding rapidly. Given limited health care budgets and few national coverage decisions specifically for genetic tests, evidence of benefits and harms is a key requirement in decision making; however, assessing the benefits and harms of genetic tests raises a number of challenging issues. Frequently, evidence of medical benefits and harms is limited due to practical and ethical limitations of conducting mea…
Development of a questionnaire for evaluating genetics education in general practice
Challenges in recruiting Mexican women for cancer genetics research
Confidence of primary care physicians in their ability to carry out basic medical genetic tasks—a European survey in five countries—Part 1