Outcomes from a pilot genetic counseling intervention using motivational interviewing and the extended parallel process model to increase cascade cholesterol screening.

Familial hypercholesterolemia (FH) is an inherited condition resulting in increased risk of premature cardiovascular disease. This risk can be reduced with early diagnosis and treatment, but it can be challenging to identify individuals with FH. Cascade screening, the most efficient and cost-effective identification method, requires FH patients to communicate with their at-risk family and encourage them to pursue screening. Beyond FH, patients with conditions increasing disease risk to family members report barriers to the communication process such as insufficient knowledge of the condition and discomfort informing relatives. We conducted a pilot study of a genetic counseling intervention incorporating behavior-change principles from motivational interviewing (MI) and the extended parallel process model (EPPM) to help parents of children with FH overcome these barriers and improve cascade screening rates for FH. Of the 13 participants who completed the intervention and post-intervention surveys, 6 reported contacting and/or screening additional relatives. A large effect size in increasing communication and screening was observed (η2  = 0.20), with the mean percent of at-risk relatives contacted rising from 33% to 45%, and the mean percent screened rising from 32% to 42%. On average, 2.23 new relatives were contacted and 2.46 were screened, per participant, by the end of the study. Direct content analysis revealed that despite the open-ended nature of the goal-setting process, participant goals fell into two categories including those who set goals focused on communicating with and screening family members (n = 9) and those who set goals only focused on managing FH (n = 4). Overall, the communication and screening rates reported after the intervention were higher than previous observations in adult FH populations. These results suggest this EPPM/MI genetic counseling intervention could be a useful tool for increasing communication and cascade screening for FH. With further research on goal-setting techniques, the intervention could be refined and replicated to identify more individuals affected by FH or modified for use with other actionable genetic conditions.

Childhood BMI and Fasting Glucose and Insulin Predict Adult Type 2 Diabetes: The International Childhood Cardiovascular Cohort (i3C) Consortium.

OBJECTIVE: To examine childhood BMI, fasting glucose, and insulin in relation to incident adult type 2 diabetes mellitus (T2DM). RESEARCH DESIGN AND METHODS: We used data from the International Childhood Cardiovascular Cohort (i3C) Consortium. Data included childhood (age 3-19 years) measurements obtained during the 1970s-1990s; a health questionnaire, including self-report of adult T2DM (occurrence age, medication use) obtained at mean age 40 years; and a medical diagnosis registry (Finland). RESULTS: The sample included 6,738 participants. Of these, 436 (6.5%) reported onset of T2DM between ages 20 and 59 (mean 40.8) years, and 86% of them reported use of a confirmed antidiabetic medication. BMI and glucose (age and sex standardized) were associated with incident T2DM after adjustment for cohort, country, sex, race, age, and calendar year of measurement. Increasing levels of childhood BMI and glucose were related to an incrementally increased risk of T2DM beginning at age 30 years, beginning at cut points <95th percentile for BMI and <100 mg/dL for glucose. Insulin was positively associated with adult T2DM after adjustment for BMI and glucose and added to T2DM discrimination. CONCLUSIONS: Childhood BMI and glucose are predictors of adult T2DM at levels previously considered to be within the normal range. These easy-to-apply measurements are appealing from a clinical perspective. Fasting insulin has the potential to be an additional predictor.

Pediatric cholesterol screening practices in 9- to 11-year-olds in a large midwestern primary care setting.

BACKGROUND: Early diagnosis and treatment of familial hypercholesterolemia reduces patient morbidity and mortality associated with coronary heart disease. Despite guidelines recommending screening of all pediatric patients aged 9 to 11 years, universal screening rates are reportedly low. Evaluating current screening practices provides key insights to inform and improve screening rates in the future. OBJECTIVE: The objective of the study was to assess universal cholesterol screening rates for a large cohort of pediatric patients within one healthcare system and at the individual provider and clinic levels. METHODS: A retrospective review of more than 50,000 electronic health records of children aged 9 to 11 years seen at 46 primary care clinics in a large Midwestern healthcare system between 2011 and 2016 was completed. Descriptive statistics of cholesterol screening status, lipid test results, and patient demographics were used for comparisons of factors influencing screening rates. RESULTS: Between 2011 and 2016, 4.0% of eligible pediatric patients were screened in the healthcare system. A majority of clinics and providers screened 4.0% or fewer of eligible patients. Six of the 333 providers (1.8%) screened >10% of eligible patients and completed a majority of the screening at the three higher screening clinics. CONCLUSION: Rates of universal cholesterol screening for pediatric patients were low. Low guideline adherence may be an issue in more than one large healthcare system and state. A small number of physicians appear to be driving screening in clinics with higher screening rates. Further investigation into the motivations of these higher screening providers and the barriers faced by low-screening providers may help inform efforts to improve cholesterol screening rates.