RESUMEN
AIM: To examine community pharmacists' attitudes towards pharmacogenetic (PGx) testing, including their views of the clinical utility of PGx and the ethical, social, legal and practical implications of PGx testing. METHODS: A web-based survey administered to 5600 licensed community pharmacists in the states of Ohio and Pennsylvania (USA). RESULTS: Of 580 respondents, 78% had a Bachelor of Science degree in pharmacy and 58% worked in a chain drug store. Doctors of pharmacy-trained pharmacists had a significantly higher knowledge score than those with a Bachelor of Science in pharmacy (3.2 ± 0.9 vs 2.6 ± 0.6; p < 0.0001). All pharmacists had positive attitudes towards PGx and most (87%) felt it would decrease the number of adverse events, and optimize drug dosing. More than half (57%) of pharmacists felt that it was their role to counsel patients regarding PGx information. Many (65%) were concerned that PGx test results may be used to deny health insurance. CONCLUSION: Regardless of the type of education, all pharmacists had positive attitudes towards PGx. There is still a concern among pharmacists that PGx test results may be used to deny health insurance and, thus, there is a need to educate pharmacists about legal protections prohibiting certain forms of unfair discrimination based on genotype.
RESUMEN
PURPOSE: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder of vascular development resulting in direct connections between the arterial and venous systems, bypassing capillaries. Symptoms and signs can appear throughout life and marked intrafamilial variability confounds diagnosis based purely on clinical criteria. We set out to determine the impact of genetic testing on the cost of screening for HHT in at-risk relatives. METHODS: We performed economic modeling of idealized pedigrees following two scenarios: repeated clinical screening until an HHT diagnosis could be either affirmed or excluded, and mutation testing in the proband, followed by genetic testing of at-risk relatives and clinical monitoring of only those relatives who test positive for the familial mutation. RESULTS: Based on actual reimbursement data from our region's largest health insurer, the molecular diagnostic model saved over $22,000 for a family with four relatives at risk for the initial diagnostic work-up. For a cohort of 100 probands, the total savings for the molecular diagnostic model over a reasonable period of follow-up was greater than $9 million. CONCLUSION: In this idealized setting in which all probands and at-risk relatives accepted molecular testing, the economic advantages of genetic screening over repeated clinical screening are substantial.
Asunto(s)
Ahorro de Costo/economía , Pruebas Genéticas/economía , Linaje , Telangiectasia Hemorrágica Hereditaria/diagnóstico , Adulto , Preescolar , Estudios de Cohortes , Recolección de Datos/economía , Femenino , Humanos , Masculino , Mutación , Telangiectasia Hemorrágica Hereditaria/genética , Adulto JovenRESUMEN
AIM: Despite predictions of increased clinical applications, little is known about primary care providers' (PCPs') readiness to apply genomics to patient care. The aim was to assess PCPs' current experience with genetic testing, their assessment of the understandability and clinical utility of information in sample direct-to-consumer reports for genomic assessment of disease risk and warfarin dosing and attitudes toward genomic medicine. MATERIALS & METHODS: A web-based survey of PCPs who are members of Knowledge Networks' Physician Consulting Network was conducted. RESULTS: Of the 502 respondents (23.3% response rate), most ordered genetic tests infrequently. When presented with the direct-to-consumer genomic testing reports, most believed the reports were understandable, and would be willing to review results with a patient, and many believed the results would be helpful in patient management. CONCLUSION: Despite limited experience with genetic tests, PCPs are open to helping patients understand genomic information. However, additional physician education is needed.
RESUMEN
PURPOSE: Appropriate management of autosomal dominant disorders reduces morbidity and mortality but relies on identifying which family members are affected. Genetic testing may identify relatives needing follow-up but is underused. We conducted this study to identify barriers to genetic testing for one disorder, hereditary hemorrhagic telangiectasia. METHODS: Surveys and online discussion groups with people from hereditary hemorrhagic telangiectasia families. RESULTS: Multiple barriers to hereditary hemorrhagic telangiectasia genetic testing were identified including lack of knowledge about genetic testing, problems with access, and emotional barriers. Many participants did not understand the rationale for hereditary hemorrhagic telangiectasia testing or benefits of early detection; believed that genetic testing is expensive and not covered by insurance; and believed that primary care providers do not know how to order genetic testing. Access to hereditary hemorrhagic telangiectasia testing is limited by distance from a hereditary hemorrhagic telangiectasia center or a genetics clinic. Emotional barriers include fear of insurance discrimination; denial of having hereditary hemorrhagic telangiectasia or being at risk; and guilt and stigma. CONCLUSION: Voluntary disease organizations should develop and disseminate brief educational materials that describe the rationale for genetic testing and emphasize the benefits of early detection and treatment. In addition, laboratories offering genetic testing should provide support for primary care physicians to order and interpret genetic tests.
Asunto(s)
Pruebas Genéticas/estadística & datos numéricos , Telangiectasia Hemorrágica Hereditaria/diagnóstico , Femenino , Humanos , Masculino , Telangiectasia Hemorrágica Hereditaria/genéticaRESUMEN
OBJECTIVE: To assess clinical determinants of systemic inflammation in persons with chronic spinal cord injury (SCI). DESIGN: Cross-sectional survey. SETTING: Veterans Affairs medical center. PARTICIPANTS: As part of an epidemiologic study assessing SCI-related health conditions, 63 men with chronic SCI provided a blood sample and information regarding locomotive mode and personal habits. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURE: Plasma high-sensitivity C-reactive protein (CRP). RESULTS: The mean +/- standard deviation age was 56+/-14y, and participants were assessed 21+/-13y after injury. Adjusting for heart disease, hypertension, and body mass index (BMI), the mean CRP in 12 motorized wheelchair users (5.11mg/L) was not significantly greater than 23 participants who used a manual wheelchair (2.19mg/L) (P=.085) but was significantly greater than the 17 who walked with an assistive device (1.41mg/L) (P=.005) and the 12 who walked independently (1.63mg/L) (P=.027). CRP was significantly greater in participants with obesity but was not related to age, smoking, or SCI level and severity. CRP was elevated in participants reporting a urinary tract infection (UTI) or pressure ulcer within a year, but adjustment for this did not account for the elevated CRP in motorized wheelchair users. CONCLUSIONS: These results suggest that CRP in chronic SCI is independently related to locomotive mode, BMI, and a history of pressure ulcers and UTI. It is suggested that future studies in SCI investigate whether modifying these factors influence systemic inflammation and cardiovascular health.