Social and Communicative Functions of Informed Consent Forms in East Asia and Beyond

The recent research and technology development in medical genomics has raised new issues that are profoundly different from those encountered in traditional clinical research for which informed consent was developed. Global initiatives for international collaboration and public participation in genomics research now face an increasing demand for new forms of informed consent which reflect local contexts. This article analyzes informed consent forms (ICFs) for genomic research formulated by four selected research programs and institutes in East Asia – the Medical Genome Science Program in Japan, Universiti Sains Malaysia Human Research Ethics Committee in Malaysia, and the Taiwan Biobank and the Taipei Medical University- Joint Institutional Review Board in Taiwan. The comparative text analysis highlights East Asian contexts as distinct from other regions by identifying communicative and social functions of consent forms. The communicative functions include re-contact options and offering interactive support for research participants, and setting opportunities for family or community engagement in the consent process. This implies that informed consent cannot be validated solely with the completion of a consent form at the initial stage of the research, and informed consent templates can facilitate interactions between researchers and participants through (even before and after) the research process. The social functions consist of informing participants of possible social risks that include genetic discrimination, sample and data sharing, and highlighting the role of ethics committees. Although international ethics harmonization and the subsequent coordination of consent forms may be necessary to maintain the quality and consistency of consent process for data-intensive international research, it is also worth paying more attention to the local values and different settings that exist where research participants are situated for research in medical genomics. More than simply tools to gain consent from research participants, ICFs function rather as a device of social communication between research communities and civic communities in liaison with intermediary agents like ethics committees, genetic counselors, and public biobanks and databases

Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia

<p>Abstract</p> <p>Background</p> <p>Familial hypercholesterolemia is a genetic disorder mainly caused by defects in the low-density lipoprotein receptor gene. Few and limited analyses of familial hypercholesterolemia have been performed in Malaysia, and the underlying mutations therefore remain largely unknown.</p> <p>We studied a group of 154 unrelated FH patients from a northern area of Malaysia (Kelantan). The promoter region and exons 2-15 of the LDLR gene were screened by denaturing high-performance liquid chromatography to detect short deletions and nucleotide substitutions, and by multiplex ligation-dependent probe amplification to detect large rearrangements.</p> <p>Results</p> <p>A total of 29 gene sequence variants were reported in 117(76.0%) of the studied subjects. Eight different mutations (1 large rearrangement, 1 short deletion, 5 missense mutations, and 1 splice site mutation), and 21 variants. Eight gene sequence variants were reported for the first time and they were noticed in familial hypercholesterolemic patients, but not in controls (p.Asp100Asp, p.Asp139His, p.Arg471Gly, c.1705+117 T>G, c.1186+41T>A, 1705+112C>G, Dup exon 12 and p.Trp666ProfsX45). The incidence of the p.Arg471Gly variant was 11%. Patients with pathogenic mutations were younger, had significantly higher incidences of cardiovascular disease, xanthomas, and family history of hyperlipidemia, together with significantly higher total cholesterol and low density lipoprotein levels than patients with non-pathogenic variants.</p> <p>Conclusions</p> <p>Twenty-nine gene sequence variants occurred among FH patients; those with predicted pathogenicity were associated with higher incidences of cardiovascular diseases, tendon xanthomas, and higher total and low density lipoprotein levels compared to the rest. These results provide preliminary information on the mutation spectrum of this gene among patients with FH in Malaysia.</p

Social and Communicative Functions of Informed Consent Forms in East Asia and Beyond

The recent research and technology development in medical genomics has raised new issues that are profoundly different from those encountered in traditional clinical research for which informed consent was developed. Global initiatives for international collaboration and public participation in genomics research now face an increasing demand for new forms of informed consent which reflect local contexts. This article analyzes informed consent forms (ICFs) for genomic research formulated by four selected research programs and institutes in East Asia – the Medical Genome Science Program in Japan, Universiti Sains Malaysia Human Research Ethics Committee in Malaysia, and the Taiwan Biobank and the Taipei Medical University- Joint Institutional Review Board in Taiwan. The comparative text analysis highlights East Asian contexts as distinct from other regions by identifying communicative and social functions of consent forms. The communicative functions include re-contact options and offering interactive support for research participants, and setting opportunities for family or community engagement in the consent process. This implies that informed consent cannot be validated solely with the completion of a consent form at the initial stage of the research, and informed consent templates can facilitate interactions between researchers and participants through (even before and after) the research process. The social functions consist of informing participants of possible social risks that include genetic discrimination, sample and data sharing, and highlighting the role of ethics committees. Although international ethics harmonization and the subsequent coordination of consent forms may be necessary to maintain the quality and consistency of consent process for data-intensive international research, it is also worth paying more attention to the local values and different settings that exist where research participants are situated for research in medical genomics. More than simply tools to gain consent from research participants, ICFs function rather as a device of social communication between research communities and civic communities in liaison with intermediary agents like ethics committees, genetic counselors, and public biobanks and databases

Parental stature as a risk factor for stunting in Indonesia: A systematic review and meta-analysis

Stunting is defined by height of more than two standard deviations below the WorldHealth Organization's (WHO) child growth standard median. It is a significant nutritionalproblem in developing countries, where in 2021, Indonesia recorded a stunting prevalenceat 24.4%, slightly higher than the global prevalence (22%). Reducing the prevalence ofstunting has been the focus of the current administration in the Indonesian government,as delineated in the 2020–2024 National Medium-Term Development Plan. Globally,many studies have addressed parental stature as a risk factor of stunting. However,systematic reviews that summarized and critically appraised the relationship betweenparental stature and the incidence of stunting in Indonesia was scarce. This systematicreview aimed to assess parental stature as a risk factor for stunting among Indonesiantoddlers. Studies were searched through PubMed (MEDLINE), Google Scholar andMendeley. Studies on Indonesian toddlers under five years old living in Indonesia wereincluded. The quality of the included studies was assessed using Joanna Briggs Institute(JBI) critical appraisal tool. Data were extracted using a standardized data extraction formand were analyzed using Cochrane’s RevMan 5.3. Twenty-seven prospective andretrospective cohort, case-control and cross-sectional studies were included with a total4041 children. Out of 27 included studies, eight were found to be of low, seven of moderateand twelve of high quality. The result showed that parental stature was associated with theincidence of stunting among toddlers in Indonesia, either the mother only (odds ratio(OR) 1.92; 95% confidence interval (95%CI: 1.71–2.15), the father only (OR 5.21; 95%CI:1.71–15.86) or both parents (OR 3.01; 95%CI: 2.41–3.75). However, studies on father andboth parental statures suffered from substantial heterogeneity, imprecision and mixedqualities, therefore, they should be cautiously interpreted

Prognostic Biomarkers in Cardiovascular Diseases

The use of biomarkers as a reliable and reproducible indicative of the risk, severity, and progression of cardiovascular diseases (CVDs) may greatly enhance the prognostic capability of primary healthcare clinicians. In primary healthcare, the realistic and wise use of reliable biomarkers could minimize the time and costs for effective diagnosis and suitable personalized therapy for CVD patients. Therefore, the aim of the present scoping review is to evaluate the prognostic significance of biomarkers in the progression and monitoring of CVDs. The review was conducted according to the PRISMA-ScR guidelines. Eight databases were searched for articles published as of June 2021 using search terms: cardiovascular diseases AND biomarkers AND prognosis. A total of 21 studies were included in this scoping review. This review identified biomarkers BNP, cTnT yielded better accuracy of disease progression prediction in ACS and HF respectively. The availability of CVDs prognostic biomarkers in primary healthcare clinics could promote improved clinical outcomes of patients

Permissibility of prenatal diagnosis and abortion for fetuses with severe genetic disorder: type 1 spinal muscular atrophy

Abortion has been largely avoided in Muslim communities. However, Islamic jurists have established rigorous parameters enabling abortion of fetuses with severe congenital abnormalities. This decision-making process has been hindered by an inability to predict the severity of such prenatally-diagnosed conditions, especially in genetic disorders with clinical heterogeneity, such as spinal muscular atrophy (SMA). Heterogeneous phenotypes of SMA range from extremely severe type 1 to very mild type 4. Advances in molecular genetics have made it possible to perform prenatal diagnosis and to predict the types of SMA with its potential subsequent severity. Such techniques will make it possible for clinicians working in predominantly Muslim countries to counsel their patients accurately and in harmony with their religious beliefs. In this paper, we discuss and postulate that with our current knowledge of determining SMA types and severity with great accuracy, abortion is legally applicable for type 1 SMA