Correction to: Co ‑designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom
(Source: Journal of Community Genetics)
Source: Journal of Community Genetics - July 1, 2022 Category: Genetics & Stem Cells Source Type: research
OBGYN providers ’ lack of knowledge and management of genetic risks due to advanced paternal age underscore the need for updated practice guidance
This study revealed a desire for more information regarding APA risks and management among our participants. Our data suggest that GEN, MFM, and OBGYN would benefit from updated and more visible guidelines regarding APA. Additionally, OBGYN consistently showed knowledge gaps and misconceptions regarding the risks of APA. Targeted educational or guidance materials regarding APA may also be beneficial for OBGYNs. (Source: Journal of Community Genetics)
Source: Journal of Community Genetics - June 18, 2022 Category: Genetics & Stem Cells Source Type: research
Multisite assessment of the impact of a prenatal testing educational App on patient knowledge and preparedness for prenatal testing decision making
This study shows that clinical implementation of a patient educational app in a real-world setting was feasible, acceptable to pregnant people, and positively impacted patient knowledge. (Source: Journal of Community Genetics)
Source: Journal of Community Genetics - June 10, 2022 Category: Genetics & Stem Cells Source Type: research
Carrier detection probabilities for autosomal recessive variants in unrelated and consanguineous couples — an evaluation of the 86 genes of the ACMG ‘Tier 3’ panel
AbstractCarrier 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, and judgement of their performance is, therefore, anything but straightforward. We therefore derived estimates of the carrier detection probabilities among non-consanguin...
Source: Journal of Community Genetics - June 4, 2022 Category: Genetics & Stem Cells Source Type: research
Attitudes of Filipino parents of children with Down syndrome on noninvasive prenatal testing
AbstractGlobally, there has been an increasing uptake of noninvasive prenatal testing (NIPT). In the Philippines, the test is currently available through private laboratories and can be availed by families who can afford the out-of-pocket cost. In a country where elective termination of pregnancy is not an option, the question arises as to the relevance of this testing, even among health professionals. This is an exploratory qualitative study that explored the attitudes of Filipino parents of children with Down syndrome (DS) toward NIPT using thematic analysis of in-depth interviews. Study participants acknowledged the val...
Source: Journal of Community Genetics - June 2, 2022 Category: Genetics & Stem Cells Source Type: research
Cancer patients ’ understandings of genetic variants of uncertain significance in clinical care
AbstractGenetic variants of uncertain significance (VUSs) pose a growing challenge for patient communication and care in precision genomic medicine. To better understand patient perspectives of VUSs, we draw on qualitative analysis of semi-structured interviews with 22 cancer patients and individuals with cancer family history who received a VUS result. The majority of patients did not recall receiving VUS results and those who remembered expressed few worries, while respondents who were tested because of a family history of cancer were more concerned about the VUS results. Personal characteristics, medical condition, fami...
Source: Journal of Community Genetics - May 26, 2022 Category: Genetics & Stem Cells Source Type: research
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
AbstractAlthough genetic testing can be vastly informative, it creates a dilemma if a patient does not want to disclose an abnormal genetic test to at-risk relatives. A sample of 200 participants from Nevada (100 physicians, 100 non-physicians) completed an 11-item questionnaire asking demographic information, familiarity with genetics and genetic testing, and opinions about a physician ’s role in a hypothetical case in which a patient does not wish to communicate herBRCA1 mutation to her sister. Although most respondents did not think the physician should notify the sister against the patient ’s wishes, more non-physi...
Source: Journal of Community Genetics - May 21, 2022 Category: Genetics & Stem Cells Source Type: research
Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom
AbstractThe communication of genomic results to patients and families with rare diseases raise distinctive challenges. However, there is little evidence about optimal methods to communicate results to this group of service users. To address this gap, we worked with rare disease families and health professionals from two genetic/genomic services, one in the United Kingdom and one in the Czech Republic, to co-design that best meet their needs. Using the participatory methodology of Experience-Based Co-Design (EBCD), we conducted observations of clinical appointments (n=49) and interviews with family participants (n=23) and h...
Source: Journal of Community Genetics - May 6, 2022 Category: Genetics & Stem Cells Source Type: research
