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