journal
https://read.qxmd.com/read/38451397/a-collaborative-model-for-medical-genetics-services-delivery-in-portugal-a-multidisciplinary-perspective
#1
LETTER
Catarina Costa, João Silva, Luís Filipe Azevedo, Marina Serra de Lemos, Milena Paneque
No abstract text is available yet for this article.
March 7, 2024: Journal of Community Genetics
https://read.qxmd.com/read/38441842/research-biobank-participants-attitudes-towards-genetic-exceptionalism-and-health-record-confidentiality
#2
JOURNAL ARTICLE
Victoria Dortenzio, Rosamond Rhodes, Amanda Merkelson, Hetanshi Naik
Understanding attitudes towards genetic exceptionalism and confidentiality is important in guiding policies regarding special protections for genetic/genomic information stored in electronic health records (EHR). The goals of this study were to determine biobank participants' attitudes towards genetic exceptionalism and confidentiality and whether those attitudes are related to their preference for return of genetic results. An online questionnaire was distributed to patients with an EHR and email address who had previously enrolled in the BioMe Biobank program...
March 5, 2024: Journal of Community Genetics
https://read.qxmd.com/read/38427313/the-urgency-for-a-change-in-genetics-healthcare-provision-views-from-portuguese-medical-geneticists
#3
JOURNAL ARTICLE
Catarina Costa, Lídia Guimarães, Ruxanda Lungu Baião, Marina Serra de Lemos, Luís Filipe Azevedo, Milena Paneque
In the last decades, genetics has experienced significant technological advancements worldwide. However, in Portugal, serious limitations persist, compromising the functioning of healthcare in medical genetics. This study aimed to promote sharing and discussion among genetic medical professionals, to outline concrete actions to address gaps in clinical practice. Three focus groups were conducted with 19 specialists in medical genetics. The data were analyzed using the thematic analysis method to extract the main themes from the discussions...
March 1, 2024: Journal of Community Genetics
https://read.qxmd.com/read/38366313/understanding-perceptions-of-tumor-genomic-profile-testing-in-black-african-american-cancer-patients-in-a-qualitative-study-the-role-of-medical-mistrust-provider-communication-and-family-support
#4
JOURNAL ARTICLE
Caseem C Luck, Sarah Bauerle Bass, Yana Chertock, Patrick J A Kelly, Katie Singley, Ariel Hoadley, Michael J Hall
Tumor genomic profiling (TGP) examines genes and somatic mutations specific to a patient's tumor to identify targets for cancer treatments but can also uncover secondary hereditary (germline) mutations. Most patients are unprepared to make complex decisions related to this information. Black/African American (AA) cancer patients are especially at risk because of lower health literacy, higher levels of medical mistrust, and lower awareness and knowledge of genetic testing. But little is known about their TGP attitudes or preferences...
February 16, 2024: Journal of Community Genetics
https://read.qxmd.com/read/38353891/public-participation-in-human-genome-editing-research-governance-what-do-scientists-think
#5
JOURNAL ARTICLE
Margaret Waltz, Michael A Flatt, Eric T Juengst, John M Conley, R Jean Cadigan
Within the numerous policy and governance recommendations for human genome editing research, anticipatory public engagement seems universally agreed upon as a vital endeavor. Yet it is unclear whether and how scientists whose research involves genome editing see value in engaging the public in discussions of genome editing research governance. To address this question, we interviewed 81 international scientists who use genome editing in their research. The views of our scientist interviewees about public engagement occupied a broad spectrum from enthusiastic support to strong skepticism...
February 14, 2024: Journal of Community Genetics
https://read.qxmd.com/read/38349598/development-of-a-culturally-targeted-chatbot-to-inform-living-kidney-donor-candidates-of-african-ancestry-about-apol1-genetic-testing-a-mixed-methods-study
#6
JOURNAL ARTICLE
Elisa J Gordon, Jessica Gacki-Smith, Matthew J Gooden, Preeya Waite, Rochell Yacat, Zenab R Abubakari, Debra Duquette, Akansha Agrawal, John Friedewald, Sarah K Savage, Matthew Cooper, Alexander Gilbert, Lutfiyya N Muhammad, Catherine Wicklund
Clinical chatbots are increasingly used to help integrate genetic testing into clinical contexts, but no chatbot exists for Apolipoprotein L1 (APOL1) genetic testing of living kidney donor (LKD) candidates of African ancestry. Our study aimed to culturally adapt and assess perceptions of the Gia® chatbot to help integrate APOL1 testing into LKD evaluation. Ten focus groups and post-focus group surveys were conducted with 54 LKDs, community members, and kidney transplant recipients of African ancestry. Data were analyzed through thematic analysis and descriptive statistics...
February 13, 2024: Journal of Community Genetics
https://read.qxmd.com/read/38334932/endline-assessment-of-knowledge-about-sickle-cell-disease-among-the-tribal-community-of-chhotaudepur-district-of-gujarat
#7
JOURNAL ARTICLE
Shaily B Surti, Ankita Parmar, Bontha V Babu, Geetika M Patel, Naresh Godara, Umang Mishra, Shubhangi Patel
Sickle cell disease (SCD) is a significant public health concern in India, with one of the highest disability burdens worldwide. For the success of the disease prevention and control program that aims to reduce prevalence through health promotion and screening, the public's prior knowledge of the disease is important. Hence, this study was conducted to assess baseline knowledge of the disease and effects of health education and community mobilization program in the SCD endemic tribal community of Gujarat. This quasi-experimental study was conducted in three phases at Chhotaudepur district of Gujarat, India...
February 9, 2024: Journal of Community Genetics
https://read.qxmd.com/read/38277068/attitudes-of-medical-professionals-toward-fragile-x-carrier-screening-and-genetic-counseling-in-china
#8
JOURNAL ARTICLE
Yingbao Zhu, Jia Li, Yi Pan, Wen Huang, Hui Xi, Ranhui Duan
Fragile X syndrome is the most common inherited cause of intellectual disability. Considering China's low prevalence, distinct healthcare system, middle-income economic status, and unique culture, China cannot simply replicate the screening systems in European and American countries. In this study, we investigated the attitudes of 450 Chinese medical professionals who received fragile X training on fragile X carrier screening and genetic counseling. Before the training, 57.6% of the respondents were unfamiliar with FXS...
January 26, 2024: Journal of Community Genetics
https://read.qxmd.com/read/38225507/advertisement-by-medical-facilities-as-an-opportunity-route-of-apoe-genetic-testing-in-japan-a-website-analysis
#9
JOURNAL ARTICLE
Kenichiro Sato, Yoshiki Niimi, Ryoko Ihara, Atsushi Iwata, Takeshi Ikeuchi, Takeshi Iwatsubo
The APOE-ε4 allele(s) is a strong risk factor for Alzheimer's disease (AD). A significant point of access for this allele testing is through services provided by medical facilities in Japan, which advertise out-of-insurance APOE testing on their websites. There is a concern that website advertisements for APOE testing may influence the ability for individuals to adequately self-determine whether to undergo APOE testing. We conducted a cross-sectional survey on medical facility websites in Japan advertising APOE genetic testing...
January 16, 2024: Journal of Community Genetics
https://read.qxmd.com/read/38165635/empowerment-of-genetic-information-by-women-at-risk-of-being-carriers-of-duchenne-and-becker-muscular-dystrophies
#10
JOURNAL ARTICLE
Alice Maria Luderitz Hoefel, Cesar Augusto Weschenfelder, Bruna Faria Rosa, Karina Carvalho Donis, Jonas Alex Morales Saute
The emergence of therapies acting on specific molecular targets for Duchenne and Becker muscular dystrophies (DBMD) led to expanded access of diagnostic DMD analysis. However, it is unclear how much of these advances have also improved healthcare and access to genetic testing for women at-risk of being carriers. This study evaluates the process of genetic counseling and empowerment of genetic information by women from DBMD families. We carried out a cross-sectional study between February and June 2022 in Brazil...
January 2, 2024: Journal of Community Genetics
https://read.qxmd.com/read/38127180/wikipedia-as-an-academic-service-learning-tool-in-science-and-technology-higher-education-case-from-siberia
#11
JOURNAL ARTICLE
Ayla Arslan, Marko Turk
Wikipedia, the open crowdsourced encyclopedia that anyone can edit, ranks among the top ten most-visited websites globally. Its integration into university curriculum as an innovative educational tool is a slowly growing trend; however, many higher education institutions have yet to fully grasp its potential. In response, a specific optional module for Wikipedia editing, designed for the selected undergraduate science courses at the School of Advanced Studies, Russia, was implemented as an optional extra credit service-learning activity, a teaching methodology combining meaningful service to the community with curriculum-based learning...
December 21, 2023: Journal of Community Genetics
https://read.qxmd.com/read/38114746/educational-tools-support-informed-decision-making-for-genetic-carrier-screening-in-a-heterogenic-israeli-population
#12
JOURNAL ARTICLE
Chen Gafni-Amsalem, Olfat Aboleil-Zoubi, Elena Chervinsky, Ola Aleme, Morad Khayat, Husam Bashir, Lilach Peled Perets, Efrat Mamluk, Shadia Hakrosh, Shoshi Kurtzman, Liron Tamir, Ayelet Baram-Tsabari, Stavit A Shalev
Reproductive genetic carrier screening (RGCS) aims to provide couples with information to make informed decisions. Since 2013, the Israeli Carrier Screening Program has been offered routinely and free of charge to all Israelis of reproductive age, personalized based on religion, ethnicity, and village/tribe where a disorder is frequent. This study evaluated the impact of two educational tools on an informed choice on RGCS uptake and satisfaction with counselling within a heterogeneous population in northern Israel...
December 20, 2023: Journal of Community Genetics
https://read.qxmd.com/read/38114745/training-of-community-health-agents-a-strategy-for-earlier-recognition-of-mucopolysaccharidoses
#13
JOURNAL ARTICLE
Diane Bressan Pedrini, Larissa Pozzebon da Silva, Taiane Alves Vieira, Roberto Giugliani
Primary Health Care (PHC) is the gateway for patients in the Brazilian unified health system (Sistema Único de Saúde-SUS), playing an extremely important role in the identification of potential patients with genetic diseases, and referral to specialized and tertiary health services. The PHC is composed of a multidisciplinary team, including the Community Health Agent, who is in direct contact with the community. To implement an educational program aimed at community health agents working in several municipalities in the state of Rio Grande do Sul (RS), Brazil...
December 20, 2023: Journal of Community Genetics
https://read.qxmd.com/read/38095830/patient-experiences-in-receiving-telegenetics-care-for-inherited-cardiovascular-diseases
#14
JOURNAL ARTICLE
Dani S Temares, Lusha W Liang, Amanda L Bergner, Muredach P Reilly, Isha Kalia
Telegenetics played an important role in providing genetic services to patients during the COVID-19 pandemic. In particular, at our institution, it enabled us to expand our genetic counseling and testing services to non-local family members of patients outside of our prior catchment area. However, as telegenetics continues to be utilized even as social distancing is no longer required, further information is needed regarding the impact of this modality on patient experience within cardiogenetics. This study qualitatively explored the experiences of 12 genotype positive individuals who underwent genetic counseling and testing via telegenetics during the first 22 months of the COVID-19 pandemic and compared the experiences of local vs...
December 14, 2023: Journal of Community Genetics
https://read.qxmd.com/read/38066351/a-qualitative-exploration-of-interprofessional-collaborative-practice-between-genetic-counselors-and-mental-health-providers
#15
JOURNAL ARTICLE
Claire Lily Martha Nusbaum, Megan Wirth, Dita Obler, Krista Redlinger-Grosse, Allison L Cirino
Genetic counselors (GCs) typically provide short-term counseling and assess patient needs, including the need for ongoing psychosocial support. While some patients may benefit from a referral to a mental health provider (MHP), previous research identified barriers to this process due to patient characteristics, the GC work environment, and MHP availability. Adoption of interprofessional collaborative practice (IPCP), a model where multiple healthcare professionals from diverse training disciplines collaborate to deliver patient care, may mitigate these barriers...
December 8, 2023: Journal of Community Genetics
https://read.qxmd.com/read/38032519/latina-immigrants-breast-and-colon-cancer-causal-attributions-genetics-is-key
#16
JOURNAL ARTICLE
Katie Fiallos, Jill Owczarzak, Joann Bodurtha, Sonia Margarit, Lori H Erby
Latinos in the US suffer health disparities including stage of disease at time of breast or colon cancer diagnosis. Understanding Latinas' causal attributions of breast and colon cancer may provide insight into some of the individual level determinants of cancer disparities in this population. Cultural consensus analysis (CCA) is one way to study causal beliefs. The objective of this study was to describe Latina immigrants' causal attributions of breast and colon cancer. We conducted Spanish-language interviews with 22 Latina immigrants using a qualitative exploratory design comprised of freelisting, ranking, and open-ended questions...
November 30, 2023: Journal of Community Genetics
https://read.qxmd.com/read/37995060/survey-of-attitude-to-human-genome-modification-in-nigeria
#17
JOURNAL ARTICLE
Maryam Jibrilla, Hayatu Raji, Malachy Ifeanyi Okeke
Gene editing and mitochondrial replacement therapy (MRT) are biotechnologies used to modify the host nuclear and mitochondrial DNA, respectively. Gene editing is the modification of a region of the host genome using site-specific nucleases, in particular the clustered regularly interspaced short palindromic repeats (CRISPR)-Cas system. Heritable and somatic genome editing (HGE and SGE) are used in gene therapy. MRT is a technique used to substitute the defective mitochondria in the recipient embryo with a female donor healthy mitochondrion in order to prevent the inheritance of mothers' defective mitochondria resulting in the change of mitochondria of the entire generation to come...
November 23, 2023: Journal of Community Genetics
https://read.qxmd.com/read/37962783/genetic-risk-prediction-in-hispanics-latinos-milestones-challenges-and-social-ethical-considerations
#18
REVIEW
Betzaida L Maldonado, Daniel G Piqué, Robert C Kaplan, Katrina G Claw, Christopher R Gignoux
Genome-wide association studies (GWAS) have allowed the identification of disease-associated variants, which can be leveraged to build polygenic scores (PGSs). Even though PGSs can be a valuable tool in personalized medicine, their predictive power is limited in populations of non-European ancestry, particularly in admixed populations. Recent efforts have focused on increasing racial and ethnic diversity in GWAS, thus, addressing some of the limitations of genetic risk prediction in these populations. Even with these efforts, few studies focus exclusively on Hispanics/Latinos...
November 14, 2023: Journal of Community Genetics
https://read.qxmd.com/read/37922053/the-impact-of-the-journal-of-community-genetics-good-health-and-wellbeing-quality-education-and-reduced-inequalities
#19
EDITORIAL
Martina C Cornel, Angus Clarke
No abstract text is available yet for this article.
November 3, 2023: Journal of Community Genetics
https://read.qxmd.com/read/37889419/retrospective-chart-analysis-to-determine-the-impact-of-a-patient-facing-digital-risk-stratification-tool-combined-with-a-clinical-screener-for-hereditary-cancer-genetic-risk-assessment-triage-in-a-community-oncology-clinic
#20
JOURNAL ARTICLE
Kate P Shane-Carson, Douglas Smith, Angie Smith, Caroline Seeley
The purpose of this study was to evaluate the utility of adding a clinical screener to the patient-facing digital risk stratification tool triage process for the identification of patients eligible for a genetic risk assessment for hereditary cancer. Digital risk stratification entries were retrospectively reviewed to determine the overall number of patients eligible for genetic risk assessment. These were also analyzed to determine how many patients were re-contacted by the clinical screener, and how many of those recontacted patients met criteria after their personal and family history was revised by the clinical screener...
October 27, 2023: Journal of Community Genetics
journal
journal
43406
1
2
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.