METHODS: In 14 Central England general practices, a novel case-finding tool (Familial Hypercholetserolaemia Case Ascertainment Tool, FAMCAT1) was applied to the electronic health records of 86 219 patients with cholesterol readings (44.5% of total practices' population), identifying 3375 at increased risk of FH. Of these, a cohort of 336 consenting to completing Family History Questionnaire and detailed review of their clinical data, were offered FH genetic testing in primary care.

RESULTS: Genetic testing was completed by 283 patients, newly identifying 16 with genetically confirmed FH and 10 with variants of unknown significance. All 26 (9%) were recommended for referral and 19 attended specialist assessment. In a further 153 (54%) patients, the test suggested polygenic hypercholesterolaemia who were managed in primary care. Total cholesterol and low-density lipoprotein-cholesterol levels were higher in those patients with FH-causing variants than those with other genetic test results (p=0.010 and p=0.002).

CONCLUSION: Electronic case-finding and genetic testing in primary care could improve identification of FH; and the better targeting of patients for specialist assessment. A significant proportion of patients identified at risk of FH are likely to have polygenic hypercholesterolaemia. There needs to be a clearer management plan for these individuals in primary care.

METHODS: Currently available indicators from both household and facility surveys were collated through publicly available global databases and respective survey instruments. We then developed a suite of potential indicators and associated data points for the 45 WHO Essential Interventions spanning preconception to newborn care. Four types of performance indicators were identified (where applicable): process (i.e. coverage) and outcome (i.e. impact) indicators for both screening and treatment/prevention. Indicators were evaluated by an international expert panel against the eRegistries indicator evaluation criteria and further refined based on feedback by the eRegistries technical team.

RESULTS: Of the 45 WHO Essential Interventions, only 16 were addressed in any of the household survey data available. A set of 216 potential indicators was developed. These indicators were generally evaluated favourably by the panel, but difficulties in data ascertainment, including for outcome measures of cause-specific morbidity and mortality, were frequently reported as barriers to the feasibility of indicators. Indicators were refined based on feedback, culminating in the final list of 193 total unique indicators: 93 for preconception and antenatal care; 53 for childbirth and postpartum care; and 47 for newborn and small and ill baby care.