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J Am Med Inform Assoc ; 27(9): 1443-1449, 2020 07 01.
Article in English | MEDLINE | ID: mdl-32940694

ABSTRACT

OBJECTIVE: The genetic testing for hereditary breast cancer that is most helpful in high-risk women is underused. Our objective was to quantify the risk factors for heritable breast and ovarian cancer contained in the electronic health record (EHR), to determine how many women meet national guidelines for referral to a cancer genetics professional but have no record of a referral. METHODS AND MATERIALS: We reviewed EHR records of a random sample of women to determine the presence and location of risk-factor information meeting National Comprehensive Cancer Network (NCCN) guidelines for a further genetic risk evaluation for breast and/or ovarian cancer, and determine whether the women were referred for such an evaluation. RESULTS: A thorough review of the EHR records of 299 women revealed that 24 (8%) met the NCCN criteria for referral for a further genetic risk evaluation; of these, 12 (50%) had no referral to a medical genetics clinic. CONCLUSIONS: Half of the women whose EHR records contain risk-factor information meeting the criteria for further genetic risk evaluation for heritable forms of breast and ovarian cancer were not referred.


Subject(s)
Breast Neoplasms/genetics , Electronic Health Records , Genetic Testing , Ovarian Neoplasms/genetics , Breast Neoplasms/prevention & control , Female , Genetic Diseases, Inborn/diagnosis , Humans , Ovarian Neoplasms/prevention & control , Referral and Consultation , Risk Factors
2.
J Clin Sleep Med ; 10(7): 779-86, 2014 Jul 15.
Article in English | MEDLINE | ID: mdl-25024656

ABSTRACT

OBJECTIVE: Clinical reports in children implicate restless legs syndrome (RLS) with sleep and behavior problems. However, population-based studies on this association in adolescents and young adults are limited. Furthermore, few studies have evaluated the association between symptoms consistent with RLS and quality of life (QoL). STUDY DESIGN: This cross-sectional study included 214 Caucasian and Hispanic adolescents and young adults aged 12-20 years. Symptoms consistent with RLS were based on four essential criteria and if the symptoms occurred ≥ 5 days/ month. Trouble falling asleep was present if reported "yes, still have the problem." Quality of life (QoL) was assessed using the Pediatric QoL Inventory. Three summary QoL scores ranging from 0-100 were evaluated; higher scores indicated better QoL. RESULTS: Participants were 50% male and 68.1% Caucasian. Prevalence of RLS was 8.4% (n = 18). RLS was associated with trouble falling asleep (OR = 3.1, p = 0.049), and trouble falling asleep was associated with worse Psychosocial Health scores (Coeff. -5.6, p = 0.004) and Total Scale scores for quality of life (Coeff. -4.6, p = 0.007). CONCLUSIONS: The prevalence of symptoms consistent with RLS in this community-based sample of adolescents and young adults, aged 12-20, is comparable to rates reported in older cohorts. Symptoms consistent with RLS may be associated with trouble falling asleep and psychosocial distress that may contribute to a lower health-related quality of life.


Subject(s)
Quality of Life/psychology , Restless Legs Syndrome/epidemiology , Sleep Initiation and Maintenance Disorders/epidemiology , Stress, Psychological/epidemiology , Adolescent , Adult , Arizona/epidemiology , Child , Comorbidity , Cross-Sectional Studies , Female , Humans , Male , Prevalence , Restless Legs Syndrome/psychology , Sleep Initiation and Maintenance Disorders/psychology , Stress, Psychological/psychology , Surveys and Questionnaires , Young Adult
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