Preconception assessment of reproductive genetic risk in primary care

Optimizing maternal health and improving reproductive outcomes are widely acknowledged as major challenges in the health care system. Care during the antenatal period has been the focus of improving maternal health and reproductive outcomes. Yet, evidences have shown that antenatal care alone is not enough. Initiating care before conception or preconception care could be potentially effective to further improve maternal health and reproductive outcomes. Preconception care encompasses a range of health promotion, risk assessment, preventative and curative interventions for women of reproductive age to reduce risks that potentially affect reproductive outcomes. It aims to provide prospective parents information and support with regards to preconception interventions that are beneficial for the parents and future children. Primary care providers are often being urged to provide preconception care as part of primary care services. In support of preconception interventions, there has been increasing evidences for such interventions. However, existing reviews or studies of preconception interventions have been limited by being risk specific, for example; focussing on folate supplementation or women with diabetes. Adding to this, interventions were reported mainly carried out in the secondary care settings. There is still paucity of evidence that comprehensively evaluate the impact of providing preconception care as a systematic approach involving multifactorial risk factors and, in particular, in primary care. Preconception care involved a range of risk assessment; assessment of genetic risk is no exception. The aim of preconception care for genetic risks is to allow women or prospective parents the opportunity to have informed reproductive decisions of future pregnancies. However, experience of offering preconception care in addressing genetic risks is yet less explored. This thesis specifically sought to evaluate the potential impact of preconception care involving assessment of reproductive genetic risk. Further, this thesis also aims to provide evidence for effectiveness of preconception interventions on multifactorial risk factors in the primary care settings. As primary care providers especially GPs are increasingly being recognised to provide such care, it was thus important to explore their views. For this, this thesis aimed to explore the opinions and attitudes of GPs in the United Kingdom towards providing preconception care that involved assessment of reproductive genetic risk in current general practice. This study took place within the Primary Care Trusts of Nottinghamshire and Derbyshire. The findings from this thesis are expected to help inform a strategy for the implementation of preconception assessment of reproductive genetic risk in the general practice in the United Kingdom. The aim of this thesis was achieved by carrying out three components of work. These components of work involve three domains that could assist in the implementation; the interventions; the settings; and exploring attitudes and opinions. 1. The first component involved carrying out a systematic review of literatures on the effectiveness of preconception care interventions in the primary care settings. 2. The second component involved carrying out a systematic review of literatures on the effectiveness of preconception assessment of reproductive genetic risk. 3. The third component involved a postal questionnaire survey of GPs practicing in the Nottinghamshire, Nottingham City, Derbyshire and Derby City Primary Care Trusts, exploring their attitudes and opinions. A new questionnaire was developed as the study instrument for this study. The first component of work has synthesized the evidence of the effectiveness of preconception interventions in the areas of maternal knowledge of pregnancy-related risks; self-efficacy and health locus of control; risk behaviour modification (for example, folate and alcohol consumption); adverse pregnancy outcomes (for example, congenital anomalies and preterm birth); and psychological consequences. The review has identified that both risk specific interventions or interventions involved multifactorial risks, both demonstrated significant improvement in maternal knowledge, self-efficacy and health locus of control. There was positive evidence for risk specific interventions in the areas involving risk behaviour modification. However, the effects for adverse pregnancy outcomes and psychological outcomes remained unclear. The second component of work sought to find evidence the effects of preconception assessment of reproductive genetic risk. The scope of literature search included family history and ancestry assessment, pre-carrier test education or consultation and carrier testing or screening. It was not possible to draw clear conclusion regarding its effectiveness as only two studies involving assessment of cystic fibrosis and haemoglobinopathies were identified. Nevertheless, the studies have provided information on potential benefits of preconception assessment of reproductive genetic risks on reproductive decisions, knowledge and understanding of carrier risk as well as psychological benefits. The third component of work involved self-administered postal questionnaire survey. The impact of this survey is restricted due to low response rates. Nevertheless, the results of this survey indicated that a substantial proportion of GPs were already offering or providing preconception assessment on reproductive genetic risk opportunistically, in particular, with women planning pregnancy and women with known family history of genetic conditions. Even if they are not offering of providing preconception assessment on reproductive genetic risk at present, majority of them indicated that they are prepared to offer and provide the service, especially when consulting women planning a pregnancy or women at-risk. Their primary concern was how to reach these women as not many would come to consult GPs for preconception advice. This study has demonstrated that family planning clinic was the most preferred primary care setting to offer preconception assessment on reproductive genetic risk. In the United Kingdom, family planning clinics serve a large proportion of women of reproductive age group, thus, this setting may provide opportunities to introduce preconception care and reproductive risk assessment including genetics. While there is paucity of evidence from the systematic reviews in my thesis that could impact on the direction or implementation of offering preconception care addressing genetic risks, many factors other than scientific evidence can influence the implementation process. Observational studies have demonstrated potential benefits of preconception care specifically preconception assessment of genetic risk interventions such as early antenatal diagnosis to informed reproductive decisions. Broad interests from the international organization such as in the United States and Netherlands have a role in the implementation. Similarly, interest from the stakeholders in particular individuals of reproductive age groups and the primary care providers also may influence the development of the interventions. In this context, the GPs that participated in the survey have provided important information on opportunities and barriers, and potential ways to facilitate its development. Nevertheless, analysis of the data has identified some areas that were not fully addressed in this thesis and this is discussed in the final chapter

Preconception assessment of reproductive genetic risk in primary care

Optimizing maternal health and improving reproductive outcomes are widely acknowledged as major challenges in the health care system. Care during the antenatal period has been the focus of improving maternal health and reproductive outcomes. Yet, evidences have shown that antenatal care alone is not enough. Initiating care before conception or preconception care could be potentially effective to further improve maternal health and reproductive outcomes. Preconception care encompasses a range of health promotion, risk assessment, preventative and curative interventions for women of reproductive age to reduce risks that potentially affect reproductive outcomes. It aims to provide prospective parents information and support with regards to preconception interventions that are beneficial for the parents and future children. Primary care providers are often being urged to provide preconception care as part of primary care services. In support of preconception interventions, there has been increasing evidences for such interventions. However, existing reviews or studies of preconception interventions have been limited by being risk specific, for example; focussing on folate supplementation or women with diabetes. Adding to this, interventions were reported mainly carried out in the secondary care settings. There is still paucity of evidence that comprehensively evaluate the impact of providing preconception care as a systematic approach involving multifactorial risk factors and, in particular, in primary care. Preconception care involved a range of risk assessment; assessment of genetic risk is no exception. The aim of preconception care for genetic risks is to allow women or prospective parents the opportunity to have informed reproductive decisions of future pregnancies. However, experience of offering preconception care in addressing genetic risks is yet less explored. This thesis specifically sought to evaluate the potential impact of preconception care involving assessment of reproductive genetic risk. Further, this thesis also aims to provide evidence for effectiveness of preconception interventions on multifactorial risk factors in the primary care settings. As primary care providers especially GPs are increasingly being recognised to provide such care, it was thus important to explore their views. For this, this thesis aimed to explore the opinions and attitudes of GPs in the United Kingdom towards providing preconception care that involved assessment of reproductive genetic risk in current general practice. This study took place within the Primary Care Trusts of Nottinghamshire and Derbyshire. The findings from this thesis are expected to help inform a strategy for the implementation of preconception assessment of reproductive genetic risk in the general practice in the United Kingdom. The aim of this thesis was achieved by carrying out three components of work. These components of work involve three domains that could assist in the implementation; the interventions; the settings; and exploring attitudes and opinions. 1. The first component involved carrying out a systematic review of literatures on the effectiveness of preconception care interventions in the primary care settings. 2. The second component involved carrying out a systematic review of literatures on the effectiveness of preconception assessment of reproductive genetic risk. 3. The third component involved a postal questionnaire survey of GPs practicing in the Nottinghamshire, Nottingham City, Derbyshire and Derby City Primary Care Trusts, exploring their attitudes and opinions. A new questionnaire was developed as the study instrument for this study. The first component of work has synthesized the evidence of the effectiveness of preconception interventions in the areas of maternal knowledge of pregnancy-related risks; self-efficacy and health locus of control; risk behaviour modification (for example, folate and alcohol consumption); adverse pregnancy outcomes (for example, congenital anomalies and preterm birth); and psychological consequences. The review has identified that both risk specific interventions or interventions involved multifactorial risks, both demonstrated significant improvement in maternal knowledge, self-efficacy and health locus of control. There was positive evidence for risk specific interventions in the areas involving risk behaviour modification. However, the effects for adverse pregnancy outcomes and psychological outcomes remained unclear. The second component of work sought to find evidence the effects of preconception assessment of reproductive genetic risk. The scope of literature search included family history and ancestry assessment, pre-carrier test education or consultation and carrier testing or screening. It was not possible to draw clear conclusion regarding its effectiveness as only two studies involving assessment of cystic fibrosis and haemoglobinopathies were identified. Nevertheless, the studies have provided information on potential benefits of preconception assessment of reproductive genetic risks on reproductive decisions, knowledge and understanding of carrier risk as well as psychological benefits. The third component of work involved self-administered postal questionnaire survey. The impact of this survey is restricted due to low response rates. Nevertheless, the results of this survey indicated that a substantial proportion of GPs were already offering or providing preconception assessment on reproductive genetic risk opportunistically, in particular, with women planning pregnancy and women with known family history of genetic conditions. Even if they are not offering of providing preconception assessment on reproductive genetic risk at present, majority of them indicated that they are prepared to offer and provide the service, especially when consulting women planning a pregnancy or women at-risk. Their primary concern was how to reach these women as not many would come to consult GPs for preconception advice. This study has demonstrated that family planning clinic was the most preferred primary care setting to offer preconception assessment on reproductive genetic risk. In the United Kingdom, family planning clinics serve a large proportion of women of reproductive age group, thus, this setting may provide opportunities to introduce preconception care and reproductive risk assessment including genetics. While there is paucity of evidence from the systematic reviews in my thesis that could impact on the direction or implementation of offering preconception care addressing genetic risks, many factors other than scientific evidence can influence the implementation process. Observational studies have demonstrated potential benefits of preconception care specifically preconception assessment of genetic risk interventions such as early antenatal diagnosis to informed reproductive decisions. Broad interests from the international organization such as in the United States and Netherlands have a role in the implementation. Similarly, interest from the stakeholders in particular individuals of reproductive age groups and the primary care providers also may influence the development of the interventions. In this context, the GPs that participated in the survey have provided important information on opportunities and barriers, and potential ways to facilitate its development. Nevertheless, analysis of the data has identified some areas that were not fully addressed in this thesis and this is discussed in the final chapter

Prevalence, factors influencing and knowledge about adherence to lipid-lowering therapy among hyperlipidemia patients

Background: Hyperlipidaemia is a significant risk factor for cardiovascular disease. However, adherence to lipid-lowering therapy is often unsatisfactory due to a combination of patient factors, therapy, socio-economic and health system-related factors. Aims: to identify the prevalence of adherence to lipid-lowering therapy, the factors contributing to non-adherence and knowledge regarding hyperlipidaemia and its’ treatment among Malaysian patients with hyperlipidemia. Methods: A quantitative study using a cross-sectional survey was carried out in an urban primary care clinic in August 2015. Patients on lipid-lowering therapy for ≥ 1 year aged ≥ 18 years were selected using simple random sampling. consenting patients answered a self-administered questionnaire (in Malay/English) which included socio-demographic profile, hyperlipidaemia profile, adherence to lipid-lowering therapy (using the Morisky Medication Adherence scale-8; score ≥ 6 taken as adherent), reasons leading to non-adherence, knowledge regarding hyperlipidaemia and its’ treatment, and use of non-allopathic medicine. Results: the response rate was 90.7%. the prevalence of adherence to lipid-lowering therapy was 82.4%. “the most common reasons for non-adherence was being worried about side effect of lipid-lowering agent (71.4%), followed by the need to take too many drugs in a day (61.4%) and negative influences by friends, relative and mass media (60%)”. Factors associated with non-adherence include male gender, on longer duration of therapy, less frequency of follow-up, less number of follow-up clinics, taking medication at night/random timing and having lower knowledge scores. Conclusion: Overall the prevalence of adherence was high in patients with hyperlipidaemia. Interventions to boost adherence should target those who were identified as non-adherent

Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease

Background: Globally, about five per cent of children are born with congenital or genetic disorders. The most common autosomal recessive conditions are thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease, with higher carrier rates in specific patient populations. Identifying and counselling couples at genetic risk of the conditions before pregnancy enables them to make fully informed reproductive decisions, with some of these choices not being available if genetic counselling is only offered in an antenatal setting. This is an update of a previously published review. Objectives: To assess the effectiveness of systematic preconception genetic risk assessment to improve reproductive outcomes in women and their partners who are identified as carriers of thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease in healthcare settings when compared to usual care. Search methods: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Trials Registers. In addition, we searched for all relevant trials from 1970 (or the date at which the database was first available if after 1970) to date using electronic databases (MEDLINE, Embase, CINAHL, PsycINFO), clinical trial databases (National Institutes of Health, Clinical Trials Search portal of the World Health Organization, metaRegister of controlled clinical trials), and hand searching of key journals and conference abstract books from 1998 to date (European Journal of Human Genetics, Genetics in Medicine, Journal of Community Genetics). We also searched the reference lists of relevant articles, reviews and guidelines and also contacted subject experts in the field to request any unpublished or other published trials. Date of latest search of the registers: 20 June 2017. Date of latest search of all other sources: 16 November 2017. Selection criteria: Any randomised or quasi-randomised controlled trials (published or unpublished) comparing reproductive outcomes of systematic preconception genetic risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease when compared to usual care. Data collection and analysis: We identified 25 papers, describing 16 unique trials which were potentially eligible for inclusion in the review. However, after assessment, no randomised controlled trials of preconception genetic risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease were found. Main results: No randomised controlled trials of preconception genetic risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease were included. One ongoing trial has been identified which may potentially eligible for inclusion once completed. Authors' conclusions: As no randomised controlled trials of preconception genetic risk assessment for thalassaemia, sickle cell disease, cystic fibrosis, or Tay-Sachs disease were found for inclusion in this review, the research evidence for current policy recommendations is limited to non-randomised studies. Information from well-designed, adequately powered, randomised trials is desirable in order to make more robust recommendations for practice. However, such trials must also consider the legal, ethical, and cultural barriers to implementation of preconception genetic risk assessment

Is family history still underutilised? exploring the views and experiences of primary care doctors in Malaysia

Family history has long been recognised as a non-invasive and inexpensive tool to identify individuals at risk of genetic conditions. Even in the era of evolving genetic and genomic technology, the role of family history in predicting individual risk for genetic testing and guiding in preventive interventions is still relevant, especially in low-resource countries. The aim of this study was to explore primary care doctors' views and experiences in family history taking and how they utilised family history in day-to-day clinical consultations in Malaysia. Four focus group discussions and six in-depth interviews involving 25 primary care doctors were conducted. Three themes emerged from the analysis: (1) primary care doctors considered family history as an important part of clinical assessment, (2) proactive versus reactive approach in collecting family history and (3) family history collection was variable and challenging. Family history was documented in either free text or pedigree depending on the perception of its appropriateness during the consultation. This study highlighted the need to improve the approach, documentation and the implementation of family history in the Malaysian primary care settings. Integrating family filing concept with built-in clinical decision support into electronic medical records is a potential solution in ensuring effective family history taking in primary care

A self-management app to improve asthma control in adults with limited health literacy:a mixed-method feasibility study

Abstract Background Digital technology tailored for those with limited health literacy has the potential to reduce health inequalities. Although mobile apps can support self-management in chronic diseases, there is little evidence that this approach applies to people with limited health literacy. We aimed to determine the acceptability of a self-management app in adults living with asthma and have limited health literacy and the feasibility of delivering the intervention and assessing outcomes. Methods We recruited eligible adults from the Klang Asthma Cohort registry in primary care for a 3-month mixed-method study plus a 2-month extended observation. We collected baseline data on socio-demography, health literacy and asthma control level. The outcomes of the intervention were assessed at 1- and 3-month: i) adoption (app download and usage), ii) adherence (app usage), iii) retention (app usage in the observation period), iv) health outcomes (e.g., severe asthma attacks) and v) process outcomes (e.g., ownership and use of action plans). At 1-month, participants were purposively sampled for in-depth interviews, which were audio-recorded, transcribed verbatim, and analysed deductively. Results We recruited 48 participants; 35 participants (23 Female; median age = 43 years; median HLS score = 28) completed the 3 months study. Of these, 14 participants (10 Female; median age = 48 years; median HLS score = 28) provided interviews. Thirty-seven (77%) participants adopted the app (downloaded and used it in the first month of the study). The main factor reported as influencing adoption was the ease of using the app. A total of 950 app usage were captured during the 3-month feasibility study. App usage increased gradually, peaking at month 2 (355 total log-ins) accounting for 78% of users. In month 5, 51.4% of the participants used the app at least once. The main factors influencing continued use included adherence features (e.g., prompts and reminders), familiarity with app function and support from family members. Conclusions An asthma self-management app intervention was acceptable for adults with limited health literacy and it was feasible to collect the desired outcomes at different time points during the study. A future trial is warranted to estimate the clinical and cost-effectiveness of the intervention and to explore implementation strategies

Psychological health and wellbeing of primary healthcare workers during COVID-19 pandemic in Malaysia:a longitudinal qualitative study

BACKGROUND: Primary healthcare workers (PHCWs) are at the frontline of dealing with viral pandemics. They may experience significant psychological stresses, which have hitherto not been examined in depth. We aimed to explore the impact of the COVID-19 pandemic on the psychological health and wellbeing of frontline PHCWs in Malaysia. METHOD: We purposively recruited PHCWs with diverse backgrounds in Klang Valley, Malaysia. Using longitudinal qualitative methods, we conducted two sequential semi-structured telephone interviews, 3 to 4 weeks apart, to capture different stages of the pandemic. Interviews were audio-recorded, transcribed verbatim, and analysed thematically. RESULT: Twenty-one PHCWs participated yielding a total of forty-two interviews. Themes clustered around stressors associated with work, home, and leisure activities, emotional changes, and modifying factors. In the first interviews, COVID-19 had just started in Malaysia. Participants expressed fear about the actual and perceived personal risk of COVID-19 infection. Most were worried about transmitting COVID-19 to their family members. Some felt stigmatized because of this perceived risk of infection. By the second interviews, participants felt safer, but instead focused on the need to keep other people safe. Participants’ emotions were influenced by their perceived risk of contracting COVID-19 infection. Internal factors such as religion enabled them to manage their concerns and develop personal coping strategies. Support from family members, colleagues, and employers promoted wellbeing during the pandemic. Training sessions, daily roll calls, and psychological support services were important in maintaining their psychological health and wellbeing. Many participants were hopeful and believed normalcy would return by the end of 2020. CONCLUSION: PHCW’s psychological health and wellbeing evolved throughout the early stages of the pandemic and were influenced by their perceived risk of contracting the disease and personal belief structures. Clear updates on the disease and strategies for keeping safe at work and socially are essential to maintaining PHCWs’ psychological health and wellbeing. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12875-022-01870-0

Assessing catastrophic health expenditure and impoverishment in adult asthma care:a cross-sectional study of patients attending six public health clinics in Klang District, Malaysia

BackgroundIn Malaysia, asthma is a common chronic respiratory illness. Poor asthma control may increase out-of-pocket payment for asthma care, leading to financial hardships Malaysia provides Universal Health Coverage for the population with low user fees in the public health system to reduce financial hardship. We aimed to determine out-of-pocket expenditure on outpatient care for adult patients with asthma visiting government-funded public health clinics. We examined the catastrophic impact and medical impoverishment of these expenses on patients and households in Klang District, Malaysia.MethodsThis is a cross-sectional face-to-face questionnaire survey carried out in six government-funded public health clinics in Klang District, Malaysia. We collected demographic, socio-economic profile, and outpatient asthma-related out-of-pocket payments from 1003 adult patients between July 2019 and January 2020. Incidence of catastrophic health expenditure was estimated as the proportion of patients whose monthly out-of-pocket payments exceeded 10% of their monthly household income. Incidence of poverty was calculated as the proportion of patients whose monthly household income fell below the poverty line stratified for the population of the Klang District. The incidence of medical impoverishment was estimated by the change in the incidence of poverty after out-of-pocket payments were deducted from household income. Predictors of catastrophic health expenditure were determined using multivariate regression analysis.ResultsWe found the majority (80%) of the public health clinic attendees were from low-income groups, with 41.6% of households living below the poverty line. About two-thirds of the attendees reported personal savings as the main source of health payment. The cost of transportation and complementary-alternative medicine for asthma were the main costs incurred. The incidences of catastrophic expenditure and impoverishment were 1.69% and 0.34% respectively. The only significant predictor of catastrophic health expenditure was household income. Patients in the higher income quintiles (Q2, Q3, Q4) had lower odds of catastrophic risk than the lowest quintile (Q1). Age, gender, ethnicity, and poor asthma control were not significant predictors.ConclusionThe public health system in Malaysia provides financial risk protection for adult patients with asthma. Although patients benefited from the heavily subsidised public health services, this study highlighted those in the lowest income quintile still experienced financial catastrophe and impoverishment, and the risk of financial catastrophe was significantly greater in this group. It is crucial to ensure health equity and protect patients of low socio-economic groups from financial hardship.<br/

Hajj health examination for pilgrims with asthma in Malaysia:An ethnographic study

BACKGROUND: Asthma was one of the top causes of hospitalization and unscheduled medical attendances due to acute exacerbations and its complications. In Malaysia, all pilgrims must undergo a mandatory health examination and certified fit to perform pilgrimage. We studied the current organisational and clinical routines of Hajj health examination in Malaysia with a focus on the delivery of care for pilgrims with asthma. METHODS: We conducted non-participant observation to obtain ethnographic understanding of Hajj health examination activities for 2019. Observations were guided by a checklist and recorded as notes that were analysed thematically. The study was conducted at 11 public (from each region in Malaysia, namely, North, South, East, West of Peninsular Malaysia, and Sabah and Sarawak of East Malaysia) and two private primary care clinics. RESULTS: We observed considerable variation in the implementation and practice of Hajj health examinations among the 11 public clinics but no marked variation among the private clinics. The short time span of between three to four months was inadequate for disease control measures and had put pressure on health care providers. They mostly viewed the Hajj health examination as merely a certification of fitness to perform the pilgrimage, though respiratory health assessment was often inadequate. The opportunity to optimise the health of pilgrims with asthma by providing the appropriate medications, asthma action plan and asthma education including the preventive measures was disregarded. The preliminary health screening, which aimed to optimise pilgrims’ health before the actual Hajj health examination was not appreciated by either pilgrims or health care providers. CONCLUSIONS: There is great potential to reform the current system of Hajj health certification in order to optimise its potential benefits for pilgrims with asthma. A systematic approach to restructuring the delivery of Hajj health examination could address the time constraints, clinical competency of primary health care providers and resources limitations