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Journal of Community Genetics

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https://www.readbyqxmd.com/read/28921376/legal-issues-in-governing-genetic-biobanks-the-italian-framework-as-a-case-study-for-the-implications-for-citizen-s-health-through-public-private-initiatives
#1
Cinzia Piciocchi, Rossana Ducato, Lucia Martinelli, Silvia Perra, Marta Tomasi, Carla Zuddas, Deborah Mascalzoni
This paper outlines some of the challenges faced by regulation of genetic biobanking, using case studies coming from the Italian legal system. The governance of genetic resources in the context of genetic biobanks in Italy is discussed, as an example of the stratification of different inputs and rules: EU law, national law, orders made by authorities and soft law, which need to be integrated with ethical principles, technological strategies and solutions. After providing an overview of the Italian legal regulation of genetic data processing, it considers the fate of genetic material and IP rights in the event of a biobank's insolvency...
September 18, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28914431/a-rare-disorder-or-not-how-a-child-with-jaundice-changed-a-nationwide-regimen-in-the-netherlands
#2
E A L van den Heuvel, A Baauw, S J Mensink-Dillingh, M Bartels
Due to global migration, there is an increased frequency of diseases, which used to be rare in Western countries. Here, we describe a striking case in order to create awareness for diseases that are known for decades but sometimes "forgotten" in Western countries, including glucose-6-phosphate dehydrogenase deficiency. We will discuss how everyday practice can lead to serious medical problems and present general recommendations to support.
September 15, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28914427/the-clinical-and-genetic-spectrum-of-maroteaux-lamy-syndrome-mucopolysaccharidosis-vi-in-the-eastern-province-of-saudi-arabia
#3
Nouriya Abbas Al-Sannaa, Hind Yousif Al-Abdulwahed, Sami Ibrahim Al-Majed, Issam Hassan Bouholaigah
Mucopolysaccharidosis (MPS VI) or Maroteaux-Lamy syndrome is an autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylgalactosamine 4-sulfatase or arylsulfatase B. It is involved in the degradation of glycosaminoglycans and characterized by a wide spectrum of clinical and genetic heterogeneity. So far, more than 150 mutations have been reported in the ARSB gene. Most of these mutations are either novel, private, or compound heterozygous making phenotype-genotype correlation as well as population screening difficult...
September 15, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28905309/blame-a-novel-by-tony-holtzman
#4
Martina C Cornel
After writing many scientific articles at the interface of genetics and society, Neil A (Tony) Holtzman published a novel in Autumn 2016: Blame. This book review summarizes several of the story lines, some of which are related to the Inclusion of Diverse Populations in Genomics Research and Health Services, the topic of a special issue of the Journal of Community Genetics.
September 14, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28905227/genomics-for-all-in-the-21st-century
#5
Martina C Cornel, Vence L Bonham
As the field of genomics enters the second decade after the completion of the International Human Genome Project, human genomics research is still far from reflective of the ancestral diversity found in global populations. This special issue of the Journal of Community Genetics brings together a global perspective on the need for researchers and health care professionals to support achievable milestones that will enhance global ancestral diversity in genomic research for the 21st century, and integrate the resulting knowledge into health care that benefits everyone...
September 14, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28879424/increasing-the-involvement-of-diverse-populations-in-genomics-based-health-care-lessons-from-haemoglobinopathies
#6
Helen M Robinson
Integrating genomic medicine into health care delivery poses significant challenges to health professionals. To draw clinical benefit from genomic information, there is a need to build an evidence-based relationship between genotype and the physical expression of that genomic information. The work presented here uses preliminary work in the field of haemoglobinopathies to address two important challenges: to ensure that health care professionals in low- and middle-income countries are actively involved in the processes that will support genomic medicine, and that equity and diversity concerns are met so that clinical services can have relevance across all population and sub-population groups...
September 6, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28868574/racial-minority-group-interest-in-direct-to-consumer-genetic-testing-findings-from-the-pgen-study
#7
Latrice Landry, Daiva Elena Nielsen, Deanna Alexis Carere, J Scott Roberts, Robert C Green
There is little information regarding direct-to-consumer (DTC) personal genetic testing (PGT) in non-White racial minorities. Using a web-based survey, we compared the pretest interests and attitudes toward DTC-PGT of racial minority and White DTC-PGT customers of 23andMe and Pathway Genomics using chi-square tests and multinomial regression. Data were available for 1487 participants (1389 White, 44 Black, and 54 Asian). Survey responses were similar across racial groups, although a greater proportion of Blacks compared to Whites reported being "very interested" in genetic information related to traits (91...
September 4, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28868568/referral-to-cancer-genetic-counseling-do-migrant-status-and-patients-educational-background-matter
#8
J A M van der Giessen, E van Riel, M E Velthuizen, A M van Dulmen, M G E M Ausems
Participation rates in cancer genetic counseling differ among populations, as patients with a lower educational background and migrant patients seem to have poorer access to it. We conducted a study to determine the present-day educational level and migrant status of counselees referred to cancer genetic counseling. We assessed personal characteristics and demographics of 731 newly referred counselees. Descriptive statistics were used to describe these characteristics. The results show that about 40% of the counselees had a high educational level and 89% were Dutch natives...
September 4, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28856579/readability-of-informed-consent-forms-for-whole-exome-and-whole-genome-sequencing
#9
Emilia Niemiec, Danya F Vears, Pascal Borry, Heidi Carmen Howard
Whole-exome and whole-genome sequencing (WES, WGS) can generate an unprecedented amount of complex information, making the informed consent (IC) process challenging. The aim of our study was to assess the readability of English IC forms for clinical whole-exome and whole-genome sequencing using the SMOG and Flesch-Kincaid formulas. We analysed 36 forms, most of which were from US providers. The median readability grade levels were 14.75 (the SMOG formula) and 12.2 (the Flesch-Kincaid formula); these values indicate the years of education after which a person would be able to understand a text studied...
August 31, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28822109/consumer-attitudes-towards-the-establishment-of-a-national-australian-familial-cancer-research-database-by-the-inherited-cancer-connect-iccon-partnership
#10
Laura Forrest, Gillian Mitchell, Letitia Thrupp, Lara Petelin, Kate Richardson, Lyon Mascarenhas, Mary-Anne Young
Clinical genetics units hold large amounts of information which could be utilised to benefit patients and their families. In Australia, a national research database, the Inherited Cancer Connect (ICCon) database, is being established that comprises clinical genetic data held for all carriers of mutations in cancer predisposition genes. Consumer input was sought to establish the acceptability of the inclusion of clinical genetic data into a research database. A qualitative approach using a modified nominal group technique was used to collect data through consumer forums conducted in three Australian states...
August 18, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28770441/association-of-dd-genotype-of-angiotensin-converting-enzyme-gene-i-d-polymorphism-with-hypertension-among-a-north-indian-population
#11
Garima Rana, Suniti Yadav, Shipra Joshi, K N Saraswathy
Hypertension, a major risk factor for cardiovascular diseases, is among the leading causes of morbidity and mortality worldwide. Genetic predisposition to the risk of developing hypertension due to angiotensin-converting enzyme (ACE) gene insertion(I)/deletion(D) polymorphism (through altered serum ACE activity) is well documented among various populations. The present study investigated the possible association between ACE (DD) genotype and hypertension using a nested case-control study design including 451 individuals (of either sex in the age group 30-65 years) from a rural North Indian population practicing agriculture and lacto-vegetarianism...
August 2, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28755064/inclusion-of-diverse-populations-in-genomic-research-and-health-services-genomix-workshop-report
#12
Savio S Mathew, Julian Barwell, Nasaim Khan, Ella Lynch, Michael Parker, Nadeem Qureshi
Clinical genetic services and genomic research are rapidly developing but, historically, those with the greatest need are the least to benefit from these advances. This encompasses low-income communities, including those from ethnic minority and indigenous backgrounds. The "Genomix" workshop at the European Society of Human Genetics (ESHG) 2016 conference offered the opportunity to consider possible solutions for these disparities from the experiences of researchers and genetic healthcare practitioners working with underserved communities in the USA, UK and Australia...
July 28, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28733824/diagnosis-of-rare-diseases-under-focus-impacts-for-canadian-patients
#13
Daphne Esquivel-Sada, Minh Thu Nguyen
This paper presents an in-depth qualitative analysis of the impact of diagnosis on the lives of rare disease (RD) patients. While diagnosis may be described as a watershed step for RD patients, no extensive account of non-medical outcomes following a RD diagnosis exists within the literature. This study aims to fill this knowledge gap through an analysis of the impact of diagnosis on the lives of RD patients according to their personal experiences. Qualitative research was conducted in three provinces across Canada, with a total of 23 participants, both adult and parents of children with RD, diagnosed and not yet diagnosed...
July 21, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28770442/diversity-and-inclusion-in-genomic-research-why-the-uneven-progress
#14
Amy R Bentley, Shawneequa Callier, Charles N Rotimi
Conducting genomic research in diverse populations has led to numerous advances in our understanding of human history, biology, and health disparities, in addition to discoveries of vital clinical significance. Conducting genomic research in diverse populations is also important in ensuring that the genomic revolution does not exacerbate health disparities by facilitating discoveries that will disproportionately benefit well-represented populations. Despite the general agreement on the need for genomic research in diverse populations in terms of equity and scientific progress, genomic research remains largely focused on populations of European descent...
July 18, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28726230/health-wealth-and-behavioural-change-an-exploration-of-role-responsibilities-in-the-wake-of-epigenetics
#15
Danya F Vears, Flavio D'Abramo
The field of epigenetics is leading to new conceptualizations of the role of environmental factors in health and genetic disease. Although more evidence is required, epigenetic mechanisms are being implicated in the link between low socioeconomic status and poor health status. Epigenetic phenomena work in a number of ways: they can be established early in development, transmitted from previous generations and/or responsive to environmental factors. Knowledge about these types of epigenetic traits might therefore allow us to move away from a genetic deterministic perspective, and provide individuals with the opportunity to change their health status...
July 18, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28699077/focusing-attention-on-ancestral-diversity-within-genomics-research-a-potential-means-for-promoting-equity-in-the-provision-of-genomics-based-healthcare-services-in-developing-countries
#16
Nirmala D Sirisena, Vajira H W Dissanayake
Although we are well into the second decade after the completion of the International Human Genome Project, genomic research has failed to fully represent the diverse ancestry of global populations. The resultant healthcare challenges faced by populations underrepresented in genomic research needs to be tackled by the global scientific community. In this paper, we address several major factors which have contributed to the existing health disparity and put forward a combination of scientific and political interventions needed to bring about a change that will ensure all global populations benefit equally from the advances made in genomic medicine and research...
July 11, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28689351/leveraging-community-based-participatory-research-capacity-to-recruit-pacific-islanders-into-a-genetics-study
#17
Pearl A McElfish, Marie-Rachelle Narcisse, Christopher R Long, Britni L Ayers, Nicola L Hawley, Nia Aitaoto, Sheldon Riklon, L Joseph Su, Shumona Z Ima, Ralph O Wilmoth, Thomas K Schulz, Susan Kadlubar
Pacific Islanders face many health disparities, including higher rates of cardiovascular disease, cancer, obesity, and diabetes compared to other racial and ethnic groups. Specifically, the Marshallese population suffers disproportionately from type 2 diabetes, with rates 400% higher than the general US population. As part of an ongoing community-based participatory research (CBPR) partnership, 148 participants were recruited for a study examining genetic variants to better understand diabetes. Participants provided a saliva specimen in an OrageneĀ® DNA self-collection kit...
July 8, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28664264/behavioural-changes-sharing-behaviour-and-psychological-responses-after-receiving-direct-to-consumer-genetic-test-results-a-systematic-review-and-meta-analysis
#18
REVIEW
Kelly F J Stewart, Anke Wesselius, Maartje A C Schreurs, Annemie M W J Schols, Maurice P Zeegers
It has been hypothesised that direct-to-consumer genetic tests (DTC-GTs) could stimulate health behaviour change. However, genetic testing may also lead to anxiety and distress or unnecessarily burden the health care system. The aim is to review and meta-analyse the effects of DTC-GT on (1) behaviour change, (2) psychological response and (3) medical consumption. A systematic literature search was performed in three databases, using "direct-to-consumer genetic testing" as a key search term. Random effects meta-analyses were performed when at least two comparable outcomes were available...
June 29, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28660599/exploring-asian-indian-and-pakistani-views-about-cancer-and-participation-in-cancer-genetics-research-toward-the-development-of-a-community-genetics-intervention
#19
Amy E Leader, Salini Mohanty, Preethi Selvan, Ray Lum, Veda N Giri
Cancer is a leading cause of mortality among the three million Asian Indian/Pakistanis (AIPs) in the USA. AIPs have traditionally been underrepresented in cancer-related research, although reasons remain largely unexplored. We sought to understand AIP's awareness and perceptions of cancer to improve their participation in risk assessment and cancer genetics research. Four focus groups, stratified by gender and birthplace (US-born vs. foreign-born), were held at an AIP cultural center. Discussions focused on knowledge and awareness of cancer risk; how AIP culture influences cancer perceptions; access to health care services for cancer screening, diagnosis, or treatment; and willingness to or experiences with participating in cancer genetics research...
June 28, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28656483/great-expectations-patient-perspectives-and-anticipated-utility-of-non-diagnostic-genomic-sequencing-results
#20
Robyn Hylind, Maureen Smith, Laura Rasmussen-Torvik, Sharon Aufox
The management of secondary findings is a challenge to health-care providers relaying clinical genomic-sequencing results to patients. Understanding patients' expectations from non-diagnostic genomic sequencing could help guide this management. This study interviewed 14 individuals enrolled in the eMERGE (Electronic Medical Records and Genomics) study. Participants in eMERGE consent to undergo non-diagnostic genomic sequencing, receive results, and have results returned to their physicians. The interviews assessed expectations and intended use of results...
June 27, 2017: Journal of Community Genetics
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