Advantages and Disadvantages of Different Implementation Strategies of Non-Invasive Prenatal Testing in Down Syndrome Screening Programmes
Conclusion: Every implementation strategy has its advantages and disadvantages. The most favourable implementation strategy may be NIPT as the first screening test at 13 weeks, offering the most accurate screening test for Down syndrome, when the risk for spontaneous miscarriage has declined remarkably and timely confirmation by amniocentesis can be performed.Public Health Genomics (Source: Public Health Genomics)
Source: Public Health Genomics - July 17, 2015 Category: Genetics & Stem Cells Source Type: research
Translational Genomics in Low- and Middle-Income Countries: Opportunities and Challenges
Translation of genomic discoveries into patient care is slowly becoming a reality in developed economies around the world. In contrast, low- and middle-income countries (LMIC) have participated minimally in genomic research for several reasons including the lack of coherent national policies, the limited number of well-trained genomic scientists, poor research infrastructure, and local economic and cultural challenges. Recent initiatives such as the Human Heredity and Health in Africa (H3Africa), the Qatar Genome Project, and the Mexico National Institute of Genomic Medicine (INMEGEN) that aim to address these problems thr...
Source: Public Health Genomics - June 26, 2015 Category: Genetics & Stem Cells Source Type: research
Referral of Ovarian Cancer Patients for Genetic Counselling by Oncologists: Need for Improvement
Conclusions: Oncologists discuss genetic counselling with a minority of ovarian cancer patients. Mainstreaming such practice is important to optimize the management of these patients and their families. Efforts are needed to identify new models for introducing ovarian cancer genetic risk assessment in oncology practice.Public Health Genomics 2015;18:225-232 (Source: Public Health Genomics)
Source: Public Health Genomics - June 24, 2015 Category: Genetics & Stem Cells Source Type: research
How Well Do Customers of Direct-to-Consumer Personal Genomic Testing Services Comprehend Genetic Test Results? Findings from the Impact of Personal Genomics Study
Conclusions: Most customers accurately interpreted the health implications of PGT results; however, comprehension varied by demographic characteristics, numeracy and genetic knowledge, and types and format of the genetic information presented. Results suggest a need to tailor the presentation of PGT results by test type and customer characteristics.Public Health Genomics (Source: Public Health Genomics)
Source: Public Health Genomics - June 15, 2015 Category: Genetics & Stem Cells Source Type: research
Perspectives in Genetics and Sickle Cell Disease Prevention in Africa: Beyond the Preliminary Data from Cameroon
Management of sickle cell disease (SCD) in Africa needs to be accompanied by various preventive strategies, including early detection via prenatal genetic diagnosis (PND). Contrary to Cameroonian doctors who considered termination of an affected pregnancy (TAP) for SCD in 36.1%, the majority of parents (62.5%) with affected children accepted TAP in principle. In practice, most women opted for TAP (90%), justified by a huge psycho-social burden. The ethical and legal challenges of PND prompted the need to explore the use of genetics for secondary prevention of SCD. In 610 Cameroonian SCD patients, the genomic variations in ...
Source: Public Health Genomics - June 3, 2015 Category: Genetics & Stem Cells Source Type: research
Exploring the Effectiveness of Mandatory Premarital Screening and Genetic Counselling Programmes for β-Thalassaemia in the Middle East: A Scoping Review
Conclusion: This review found that PMSGC programmes were unsuccessful in discouraging at-risk marriages but successful in reducing the prevalence of affected births in countries providing prenatal detection and therapeutic abortion. A life cycle approach to prevention, incorporation of school screening, awareness campaigns, reconsideration of therapeutic abortion, and screening and counselling of couples married prior to programme inception are likely to improve the effectiveness of such programmes in the Middle Eastern region.Public Health Genomics (Source: Public Health Genomics)
Source: Public Health Genomics - May 29, 2015 Category: Genetics & Stem Cells Source Type: research
Determining Pre-Conception Risk Profiles Using a National Online Self-Reported Risk Assessment: A Cross-Sectional Study
Conclusion: Self-reported data from a large, self-selected, non-pregnant population who actively visited a web-site for reproductive information suggest the need for active general pre-conception care as risk factors were abundant. A considerable increase in attention for pre-conception care is justified; different subpopulations most likely require adapted approaches.Public Health Genomics (Source: Public Health Genomics)
Source: Public Health Genomics - May 5, 2015 Category: Genetics & Stem Cells Source Type: research
Erratum
Public Health Genomics 2015;18:191 (Source: Public Health Genomics)
Source: Public Health Genomics - April 17, 2015 Category: Genetics & Stem Cells Source Type: research
Rett Syndrome as a Rare Disease: A European Perspective
Public Health Genomics (Source: Public Health Genomics)
Source: Public Health Genomics - April 14, 2015 Category: Genetics & Stem Cells Source Type: research
2015 Golden Helix Symposium - Next Generation Pharmacogenomics. March 11-13, 2015, Kuala Lumpur, Malaysia: Abstracts
Public Health Genomics 2015;18(suppl 1):1-51 (Source: Public Health Genomics)
Source: Public Health Genomics - March 23, 2015 Category: Genetics & Stem Cells Source Type: research
Title Page
Public Health Genomics 2015;18(suppl 1):I-II (Source: Public Health Genomics)
Source: Public Health Genomics - March 23, 2015 Category: Genetics & Stem Cells Source Type: research
The Impact of Commercialisation and Genetic Data Sharing Arrangements on Public Trust and the Intention to Participate in Biobank Research
Conclusion: The pattern of results suggests that public awareness of the need for biobanks to share their resources widely needs to be increased to maintain public trust and support.Public Health Genomics (Source: Public Health Genomics)
Source: Public Health Genomics - March 13, 2015 Category: Genetics & Stem Cells Source Type: research
Primary Prevention of Congenital Anomalies: Recommendable, Feasible and Achievable
Primary prevention of congenital anomalies was identified as an important action in the field of rare diseases by the European Commission in 2008, but it was not included in the Council Recommendation on an action in the field of rare diseases in 2009. However, primary prevention of congenital anomalies is feasible because scientific evidence points to several risk factors (e.g., obesity, infectious and toxic agents) and protective factors (e.g., folic acid supplementation and glycemic control in diabetic women). Evidence-based community actions targeting fertile women can be envisaged, such as risk-benefit evaluation prot...
Source: Public Health Genomics - March 11, 2015 Category: Genetics & Stem Cells Source Type: research
Public Perceptions of Disease Severity but Not Actionability Correlate with Interest in Receiving Genomic Results: Nonalignment with Current Trends in Practice
Conclusions: The respondents from the general population were confident in making their own decisions. The responses suggested different priorities than current expert-driven approaches. The emphasis on binning genes may be missing a complementary, simplifying approach of grouping patients based upon their all/none interest in genomic results. This study illuminates important differences between the general public and genetic experts.Public Health Genomics (Source: Public Health Genomics)
Source: Public Health Genomics - March 11, 2015 Category: Genetics & Stem Cells Source Type: research
Pharmacogenetic Profile of a South Portuguese Population: Results from the Pilot Study of the European Health Examination Survey in Portugal
Conclusions: There is a high prevalence of risk alleles associated with an altered drug metabolism regarding drugs largely used by the South Portuguese population. This knowledge contributes to the prediction of their clinical efficacy and/or toxicity, optimizing therapeutic response while improving cost-effectiveness.Public Health Genomics (Source: Public Health Genomics)
Source: Public Health Genomics - March 9, 2015 Category: Genetics & Stem Cells Source Type: research
