Development and pilot testing of an online decision aid for women considering risk-stratified breast screening
(Source: Journal of Community Genetics)
Source: Journal of Community Genetics - January 21, 2022 Category: Genetics & Stem Cells Source Type: research
A systematic review of the views of healthcare professionals on the scope of preimplantation genetic testing
AbstractPreimplantation genetic testing (PGT) involves testing embryos created through in vitro fertilization for the presence of hereditary genetic disorders and chromosome abnormalities. PGT for monogenic conditions (PGT-M) is generally performed for childhood-onset, lethal disorders, but is increasingly accepted for certain adult-onset conditions, conditions with available treatment options or conditions with lower penetrance. Furthermore, the development of PGT for polygenic conditions (PGT-P) makes ethical questions regarding PGT indications imperative. A systematic review was therefore performed to gather and analyse...
Source: Journal of Community Genetics - January 14, 2022 Category: Genetics & Stem Cells Source Type: research
YouTube as an information source on BRCA mutations: implications for patients and professionals
AbstractGenetic testing for BRCA1/2 mutations in early breast cancer has been shown to be beneficial, and an increase in surveillance using these genetic markers is recommended. Given this recommendation, it is likely that individuals gather information about such testing. Social media is increasingly becoming a common source of health information. One such platform known for sharing health information is YouTube. The purpose of this study was to describe content related to BRCA1/2 mutations on YouTube. The sample included 100 English language videos, which were coded for content related to BRCA1/2 mutations. The 100 video...
Source: Journal of Community Genetics - January 13, 2022 Category: Genetics & Stem Cells Source Type: research
The haematology of Jamaicans: red cell indices in HbAA, HbAS, HbAC, and HbA-HPFH genotypes
AbstractBased in the parish of Manchester in central Jamaica, the Manchester Project offered free detection of haemoglobin genotype to senior classes in 15 secondary schools between 2008 and 2013. Restricting the database to 15,103 students aged 15.0 –19.9 years provided an opportunity to examine the red cell characteristics of the different haemoglobin genotypes, including normal (HbAA) in 85.0%, the sickle cell trait (HbAS) in 9.7%, HbC trait (HbAC) in 3.5% and hereditary persistence of foetal haemoglobin (HbA-HPFH) in 0.4%. Compared to the normal HbAA phenotype, HbAS had significantly increased mean cell haemoglobin ...
Source: Journal of Community Genetics - January 11, 2022 Category: Genetics & Stem Cells Source Type: research
Opinions and experiences of recontacting patients: a survey of Australasian genetic health professionals
This study identified the need for integrated familial cancer registries to assist under-resourced genetic services to maintain up-to-date patient records. Developing a standard recontacting protocol with flexibility to account for patient individuality and circumstances might enable provision of equitable service within Australasia. (Source: Journal of Community Genetics)
Source: Journal of Community Genetics - January 11, 2022 Category: Genetics & Stem Cells Source Type: research
The haematology of Jamaicans: red cell indices in HbAA, HbAS, HbAC, and HbA-HPFH genotypes
AbstractBased in the parish of Manchester in central Jamaica, the Manchester Project offered free detection of haemoglobin genotype to senior classes in 15 secondary schools between 2008 and 2013. Restricting the database to 15,103 students aged 15.0 –19.9 years provided an opportunity to examine the red cell characteristics of the different haemoglobin genotypes, including normal (HbAA) in 85.0%, the sickle cell trait (HbAS) in 9.7%, HbC trait (HbAC) in 3.5% and hereditary persistence of foetal haemoglobin (HbA-HPFH) in 0.4%. Compared to the normal HbAA phenotype, HbAS had significantly increased mean cell haemoglobin ...
Source: Journal of Community Genetics - January 11, 2022 Category: Genetics & Stem Cells Source Type: research
Opinions and experiences of recontacting patients: a survey of Australasian genetic health professionals
This study identified the need for integrated familial cancer registries to assist under-resourced genetic services to maintain up-to-date patient records. Developing a standard recontacting protocol with flexibility to account for patient individuality and circumstances might enable provision of equitable service within Australasia. (Source: Journal of Community Genetics)
Source: Journal of Community Genetics - January 11, 2022 Category: Genetics & Stem Cells Source Type: research
Mothers ’ knowledge and attitudes about newborn screening in Jordan
AbstractNewborn screening is an important public health program that helps save the lives of many infants worldwide. The aim of this cross-sectional descriptive study was to examine the knowledge and attitudes of mothers regarding the newborn screening test in Jordan. A convenient sample of 301 mothers of newborns was interviewed to collect data, using structured questionnaires about their knowledge and attitudes regarding the newborn screening. Most mothers exhibited positive attitudes toward the newborn screening. However, their knowledge about it was only moderate; their knowledge levels contributed positively to their ...
Source: Journal of Community Genetics - January 10, 2022 Category: Genetics & Stem Cells Source Type: research
Colorectal Cancer Survivors ’ Receptivity toward Genomic Testing and Targeted Use of Non-Steroidal Anti-Inflammatory Drugs to Prevent Cancer Recurrence
This study examines colorectal cancer (CRC) survivors ’ interest and receptivity to these strategies. Patients diagnosed with stage I-III CRC in 2004–2012 were recruited through the New Mexico Cancer Registry to complete a cancer survivorship experiences survey. We assessed interest in genomic testing, daily aspirin (ASA) and NSAID use, and recepti vity to future daily ASA/NSAIDs. Descriptive statistics and multivariable logistic regression models estimated factors associated with genomic testing interest. Receptivity to future ASA/NSAIDs use was estimated for non-users of ASA/NSAIDs. Among CRC survivors (n = 273),...
Source: Journal of Community Genetics - January 8, 2022 Category: Genetics & Stem Cells Source Type: research
Beliefs on the causes of birth defects as perceived by mothers of children with birth defects in a tertiary care hospital in the Philippines
AbstractThere are several ethnolinguistic groups or ethnicities in the Philippines, and genetic counselors may encounter clients with diverse beliefs, inscribed by their culture, about health conditions. Thus, clients may attribute the cause of a birth defect to a socio-culturally based health belief. The present study aimed to explore the beliefs on the causes of birth defects held by mothers of children diagnosed to have birth defects. The study was conducted as a qualitative descriptive pilot study in Baguio General Hospital and Medical Health Center (BGHMC), a birth defect surveillance site tertiary care hospital in th...
Source: Journal of Community Genetics - January 7, 2022 Category: Genetics & Stem Cells Source Type: research
