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1.
S Afr Med J ; 109(5): 328-332, 2019 Apr 29.
Article in English | MEDLINE | ID: mdl-31131800

ABSTRACT

BACKGROUND: Early-life exposure to excess sugar affects eating behaviour and creates a predisposition to non-communicable diseases (NCDs). While reducing sugar consumption has been high on the public health agenda, little is known about the sugar content of baby foods. OBJECTIVES: To describe and analyse the sugar content of baby foods in South Africa (SA). METHODS: A cross-sectional study was conducted to analyse the sugar content of baby foods. The study sample included commercially available baby foods targeted at children aged <12 months, sold in supermarkets and by other major retailers in SA. Primary data were obtained from the packaging, and sugar content was compared with recommended intake guidelines. Bivariate analyses were conducted to determine whether there were any associations between the sugar content, added sugar and the characteristics of foods. RESULTS: Over 70% of products were sweet in taste, with one in four containing added sugars. Sugar content was high in 78% of the foods sampled. Over 80% of cereals and pureed desserts contained added sugar. Fewer than 10% of pureed composite meal and pureed fruit and vege-table categories contained added sugar. Most products adhered to SA labelling standards, but none had front-of-pack nutritional information. CONCLUSIONS: The SA baby food market is characterised by products with a high sugar content, promoting an environment that encourages development of sweet-taste preferences and in the long term contributing to the rising burden of NCDs. There is an urgent need for mandatory regulation of sugar in baby foods.


Subject(s)
Infant Food/analysis , Infant Nutrition Disorders/prevention & control , Nutritional Status , Nutritive Value , Sugars/analysis , Cross-Sectional Studies , Female , Follow-Up Studies , Humans , Incidence , Infant , Infant Nutrition Disorders/epidemiology , Male , Recommended Dietary Allowances , Retrospective Studies , South Africa
2.
S. Afr. med. j. (Online) ; 108(1): 23-27, 2018.
Article in English | AIM (Africa) | ID: biblio-1271181

ABSTRACT

Background. South Africa (SA) is in the process of implementing National Health Insurance (NHI), which will require co-ordination of health provision across sectors and levels of care. Clinical practice guidelines (CPGs) are tools for standardising and implementing care, and are intended to influence clinical decision-making with consequences for patient outcomes, health system costs and resource use. Under NHI, CPGs will be used to guide the provision of healthcare for South Africans. It is therefore important to explore the current landscape of CPG developers and development. Objective. To identify and describe all CPGs available in the public domain produced by SA developers for the SA context. Methods. We conducted a cross-sectional evaluation using a two-part search process: an iterative, electronic search of grey literature and relevant websites (161 websites searched), and a systematic search for peer-reviewed literature (PubMed) after publication year 2000. CPGs were identified, and data were extracted and categorised by two independent reviewers. Any discrepancies were referred to a third reviewer. Data extracted included a description of the developer, condition, and reporting of items associated with CPG quality. Results. A search conducted in May 2017 identified 285 CPGs published after January 2000. Of those, 171 had been developed in the past 5 years. Developers included the national and provincial departments of health (DoH), professional societies and associations, ad hoc collaborations of clinicians, and the Council for Medical Schemes. Topics varied by developer; DoH CPGs focused on high-burden conditions (HIV/AIDS, tuberculosis and malaria), and other developers focused on non-communicable diseases. A conflict of interest statement was included in 23% of CPGs developed by societies or clinicians, compared with 4% of DoH CPGs. Conclusion. Accessing CPGs was challenging and required extensive searching. SA has many contributors to CPG development from the public and private sectors and across disciplines, but there is no formal co-ordination or prioritisation of topics for CPG development. Different versions of the CPGs were identified and key quality items were poorly reported, potentially affecting the usability and credibility of those available. There was substantial variation in CPG comprehensiveness and methodological approach. Establishing a national CPG co-ordinating unit responsible for developing standards for CPG development along with clinical quality standards, and supporting highquality CPG development, is one essential step for moving forward with NHI


Subject(s)
Quality of Health Care , South Africa
3.
S Afr Med J ; 108(1): 23-27, 2017 Dec 13.
Article in English | MEDLINE | ID: mdl-29262974

ABSTRACT

BACKGROUND: South Africa (SA) is in the process of implementing National Health Insurance (NHI), which will require co-ordination of health provision across sectors and levels of care. Clinical practice guidelines (CPGs) are tools for standardising and implementing care, and are intended to influence clinical decision-making with consequences for patient outcomes, health system costs and resource use. Under NHI, CPGs will be used to guide the provision of healthcare for South Africans. It is therefore important to explore the current landscape of CPG developers and development. OBJECTIVE: To identify and describe all CPGs available in the public domain produced by SA developers for the SA context. METHODS: We conducted a cross-sectional evaluation using a two-part search process: an iterative, electronic search of grey literature and relevant websites (161 websites searched), and a systematic search for peer-reviewed literature (PubMed) after publication year 2000. CPGs were identified, and data were extracted and categorised by two independent reviewers. Any discrepancies were referred to a third reviewer. Data extracted included a description of the developer, condition, and reporting of items associated with CPG quality. RESULTS: A search conducted in May 2017 identified 285 CPGs published after January 2000. Of those, 171 had been developed in the past 5 years. Developers included the national and provincial departments of health (DoH), professional societies and associations, ad hoc collaborations of clinicians, and the Council for Medical Schemes. Topics varied by developer; DoH CPGs focused on high-burden conditions (HIV/AIDS, tuberculosis and malaria), and other developers focused on non-communicable diseases. A conflict of interest statement was included in 23% of CPGs developed by societies or clinicians, compared with 4% of DoH CPGs. CONCLUSION: Accessing CPGs was challenging and required extensive searching. SA has many contributors to CPG development from the public and private sectors and across disciplines, but there is no formal co-ordination or prioritisation of topics for CPG development. Different versions of the CPGs were identified and key quality items were poorly reported, potentially affecting the usability and credibility of those available. There was substantial variation in CPG comprehensiveness and methodological approach. Establishing a national CPG co-ordinating unit responsible for developing standards for CPG development along with clinical quality standards, and supporting high-quality CPG development, is one essential step for moving forward with NHI.


Subject(s)
Delivery of Health Care , Practice Guidelines as Topic/standards , Quality Assurance, Health Care/methods , Clinical Decision-Making , Cross-Sectional Studies , Delivery of Health Care/organization & administration , Delivery of Health Care/standards , Humans , Needs Assessment , Program Development , South Africa
4.
S Afr Med J ; 107(10): 832-835, 2017 09 22.
Article in English | MEDLINE | ID: mdl-29022523

ABSTRACT

Improving access to basic surgical interventions has great potential to improve the length and quality of life of many people in low- and middle-income countries (LMICs). However, research has shown that current access to surgical interventions is limited, and initiatives such as the Lancet Commission on Global Surgery 2030 advocate for improved access to basic surgical interventions for all. As the needs, health system context and available budgets in each country will be different, a critical component of effective local scale-up of surgical interventions will be to use tools and processes of health technology assessment (HTA). HTA has traditionally been used in high-income countries to make decisions about which medicines and devices should be available in a health system, but its central concepts, such as assessing clinical effectiveness, cost-effectiveness and feasibility, appraising all available evidence, and incorporating wider health systems objectives in decision-making, can be applied to decisons about how LMICs can best utilise basic surgical interventions from within available resources - in essence, to focus spending on the 'best buys'. As South Africa (SA) moves towards National Health Insurance (NHI), HTA functions will be strengthened. There is potential for SA to lead the practice of application of HTA to decisions about how basic surgical interventions are chosen and implemented, contributing to the success and sustainability of NHI in SA and the health of people in LMICs worldwide.


Subject(s)
Health Priorities/economics , Health Services Accessibility/economics , Surgical Procedures, Operative/economics , Technology Assessment, Biomedical , Cost-Benefit Analysis , Developing Countries , Humans , National Health Programs , South Africa
5.
S Afr Med J ; 107(4): 331-337, 2017 Mar 29.
Article in English | MEDLINE | ID: mdl-28395686

ABSTRACT

BACKGROUND: Health information systems for monitoring chronic non-communicable diseases (NCDs) in South Africa (SA) are relatively less advanced than those for infectious diseases (particularly tuberculosis and HIV) and for maternal and child health. NCDs are now the largest cause of premature mortality owing to exposure to risk factors arising from obesity that include physical inactivity and accessible, cheap but unhealthy diets. The National Strategic Plan for the Prevention and Control of Non-Communicable Diseases 2013 - 17 developed by the SA National Department of Health outlines targets and monitoring priorities. OBJECTIVES: To assess data sources relevant for monitoring NCDs and their risk factors by identifying the strengths and weaknesses, including usability and availability, of surveys and routine systems focusing at national and certain sub-national levels. METHODS: Publicly available survey and routine data sources were assessed for variables collected, their characteristics, frequency of data collection, geographical coverage and data availability. RESULTS: Survey data sources were found to be quite different in the way data variables are collected, their geographical coverage and also availability, while the main weakness of routine data sources was poor quality of data. CONCLUSIONS: To provide a sound basis for monitoring progress of NCDs and related risk factors, we recommend harmonising and strengthening available SA data sources in terms of data quality, definitions, categories used, timeliness, disease coverage and biomarker measurement.

6.
BMC Health Serv Res ; 16(1): 590, 2016 10 19.
Article in English | MEDLINE | ID: mdl-27756293

ABSTRACT

BACKGROUND: The burden of untreated tooth decay remains high and oral healthcare utilisation is low for the majority of children in South Africa. There is need for alternative methods of improving access to low cost oral healthcare. The mobile dental unit of the University of the Witwatersrand (Wits) has been operational for over 25 years, providing alternative oral healthcare to children and adults who otherwise would not have access. The aim of this study was to conduct a cost-analysis of a school based oral healthcare program in the Wits mobile dental unit. The objectives were to estimate the general costs of the school based program, costs of oral healthcare per patient and the economic implications of providing services at scale. METHODS: In 2012, the Wits mobile dental unit embarked on a 5 month project to provide oral healthcare in four schools located around Johannesburg. Cost and service use data were retrospectively collected from the program records for the cost analysis, which was undertaken from a provider perspective. The costs considered included both financial and economic costs. Capital costs were annualised and discounted at 6 %. One way sensitivity tests were conducted for uncertain parameters. RESULTS: The total economic costs were R813.701 (US$76,048). The cost of screening and treatment per patient were R331 (US$31) and R743 (US$69) respectively. Furthermore, fissure sealants cost the least out of the treatments provided. The sensitivity analysis indicated that the Wits mobile dental unit was cost efficient at 25 % allocation of staff time and that a Dental Therapy led service could save costs by 9.1 %. CONCLUSIONS: Expanding the services to a wider population of children and utilising Dental Therapists as key personnel could improve the efficiency of mobile dental healthcare provision.


Subject(s)
Dental Care , Health Care Costs , Mobile Health Units/economics , Schools , Child , Cost-Benefit Analysis , Costs and Cost Analysis , Health Care Costs/statistics & numerical data , Humans , Male , Retrospective Studies , South Africa
7.
Article in English | AIM (Africa) | ID: biblio-1268112

ABSTRACT

The prevalence of obesity in South Africa has risen alongside the growth in consumption of sugar sweetened beverages (SSBs). This escalation in obesity places the population at greater risk for non-communicable diseases; and is increasing employee absenteeism and turnover and decreasing productivity in the workplace. Research shows that reducing SSBs will signifi cantly impact the prevalence of obesity and its related diseases. Fiscal and legislative levers are one way of addressing SSB consumption and obesity. Worksite interventions are a complementary nudge to create healthier social norms for eating


Subject(s)
Beverages , Chronic Disease , Obesity , Workplace
8.
Int J Hyg Environ Health ; 206(4-5): 453-63, 2003 Aug.
Article in English | MEDLINE | ID: mdl-12971701

ABSTRACT

Environmental health problems are among the world's most significant health concerns. Although environmental risks are experienced disproportionately by people in developing countries, environmental health research (EHR) is conducted primarily in developed countries. Human subjects participate in five main types of EHR: (1) documentation and quantification of exposure to potentially hazardous substances; (2) elucidation of biological responses to these materials; (3) characterization and measurement of susceptibility to harmful effects of hazardous materials; (4) trials involving environmental interventions to reduce risk; and (5) documentation and measurement of various manifestations of disease putatively linked to environmental exposures. Although existing frameworks for the ethics of international clinical research are generally relevant to EHR, they currently lack the specificity necessary to confront three inherent problems in EHR, namely under-determination in EHR findings, the unavoidable nature of some environmental hazards, and environmental justice implications. We examine these issues as they relate to community partnership, risk assessment, and the assessment and management of economic and political interests in EHR. We believe that there are 3 general features of ethical EHR, it has health promoting value, the populations studied are not restricted in their ability to avoid environmental hazards by economic or political repression, and the justification for conducting EHR on populations with known exposure to environmental hazards gets stronger as the limits on populations to reduce the hazards or remove themselves from them becomes greater, as long as the first and second conditions are also met.


Subject(s)
Environmental Health , Ethics, Research , Global Health , Public Health/ethics , Risk Assessment/ethics , Bioethical Issues , Developing Countries , Humans , Politics , Social Justice/ethics
9.
Arch Fam Med ; 5(6): 336-40, 1996 Jun.
Article in English | MEDLINE | ID: mdl-8640323

ABSTRACT

OBJECTIVE: To assess the effectiveness of education about cystic fibrosis carrier screening in a primary care setting. DESIGN: Participants were asked to read a brochure, and were offered cystic fibrosis carrier screening. They were assessed for knowledge after reading the brochure and again after having an opportunity to ask questions and reread the brochure at home, at which time consent for testing was obtained. SETTING: Two sites of a health maintenance organization in the Baltimore, Md, area. PARTICIPANTS: Enrollees in a health maintenance organization aged 18 to 44 years. Of 608 enrollees approached, 477 completed an initial knowledge questionnaire, and 143 consented to testing. MAIN OUTCOME MEASURE: Change in knowledge score. RESULTS: Knowledge scores improved from a mean of 69% correct initially to 75% at the time of consent (P < 0.1, Student's paired t test). When participants were stratified by educational attainment, significant improvement was observed only for participants with no more than a high school education. However, their final knowledge score was significantly lower than that of college graduates. CONCLUSIONS: For people with more formal education, printed materials augmented by a chance to ask questions may be sufficient to ensure informed consent. For less well-educated persons, additional education may be necessary to ensure understanding of difficult concepts.


Subject(s)
Comprehension , Cystic Fibrosis/genetics , Genetic Carrier Screening , Patient Education as Topic , Adolescent , Adult , Baltimore , Cystic Fibrosis/diagnosis , Education , Evaluation Studies as Topic , Female , Health Maintenance Organizations , Humans , Male , Primary Health Care
10.
Am J Med Genet ; 56(3): 272-5, 1995 Apr 10.
Article in English | MEDLINE | ID: mdl-7778588

ABSTRACT

Until recently, the diagnosis of Smith-Lemli-Opitz syndrome (SLOS), an autosomal recessive malformation/mental retardation syndrome, was made on the basis of clinical criteria alone. As a result, prenatal diagnosis has been possible only if sonography disclosed distinct fetal malformations in a subsequent pregnancy. However, the recent description of increased levels of 7-dehydrocholesterol (cholesta-5,7-dien-3 beta-ol) in patients with SLOS, most likely caused by a deficiency of 3 beta-hydroxysteroid-delta 7-reductase, has provided an apparently reliable biochemical marker for diagnosis of SLOS. To determine if this abnormality of sterol metabolism has utility for prenatal diagnosis of SLOS, we measured the levels of neutral sterols in stored amniotic fluid samples from two SLOS pregnancies. In both cases, the diagnosis of SLOS was made in the neonatal period by clinical criteria and the finding of markedly increased levels of 7-dehydrocholesterol in plasma. Quantitative analysis by gas chromatography of sterols extracted from the amniotic fluid of both pregnancies revealed similar, markedly increased levels of 7-dehydrocholesterol and its precursor, lathosterol (cholest-7-en-3 beta-ol), both of which were undetectable in reference amniotic fluids. These findings suggest that abnormalities of cholesterol biosynthesis in SLOS may be sufficiently expressed in fetal life to permit prenatal diagnosis of this disorder by measurement of 7-dehydrocholesterol in amniotic fluid.


Subject(s)
Amniotic Fluid/chemistry , Cholesterol/analysis , Cholesterol/metabolism , Dehydrocholesterols/analysis , Lipid Metabolism, Inborn Errors/diagnosis , Female , Humans , Infant, Newborn , Lipid Metabolism, Inborn Errors/genetics , Syndrome
11.
Am J Hum Genet ; 55(4): 626-37, 1994 Oct.
Article in English | MEDLINE | ID: mdl-7942840

ABSTRACT

We offered cystic fibrosis (CF) carrier testing to reproductive-age enrollees in an HMO, in order to determine factors associated with test utilization in a primarily nonpregnant population. Male and female enrollees either were mailed an invitation to have the test after attending an educational session (N = 2,713) or were approached in waiting rooms at the HMO sites and given the opportunity to have the test without making an additional visit (N = 608). Uptake was considerably higher when testing could be obtained without making an additional visit (23.5%) than when attendance at an educational session was required as a prerequisite for having the test (3.7%). Utilization was higher among respondents who were planning children. Caucasians, and those with higher educational attainment. Among respondents planning to have children, individuals with higher tolerance for test uncertainty, lower fear of stigma, and higher perceived risk of being a carrier were significantly more likely to have the test. Testing decisions were not associated with the perceived burden of a child with CF or with the likelihood of aborting for CF. Although utilization of CF carrier testing is relatively low among nonpregnant individuals, uptake is significantly higher when testing can be obtained with minimal effort. Factors associated with the decision to be tested had more to do with implications of being a carrier per se than with the concerns of having a child with CF.


Subject(s)
Cystic Fibrosis/diagnosis , Cystic Fibrosis/genetics , Genetic Carrier Screening , Adolescent , Adult , Age Factors , Baltimore , Child , Demography , Family Planning Services , Female , Health Maintenance Organizations/statistics & numerical data , Humans , Male , Odds Ratio , Patient Education as Topic , Predictive Value of Tests , Racial Groups , Regression Analysis , Surveys and Questionnaires , White People
12.
J Pediatr ; 124(4): S1-8, 1994 Apr.
Article in English | MEDLINE | ID: mdl-8151460

ABSTRACT

Visuospatial deficits have been reported in patients with neurofibromatosis type 1 (NF 1), although detailed observations regarding academic achievement are conflicting. Using neurocognitive testing and magnetic resonance imaging, we studied 12 families, each comprising one child with NF 1, an unaffected sibling of the same age range (6 to 16 years), and both biologic parents. The Full Scale IQ ranged from 70 to 130 among children with NF 1 and from 99 to 139 among unaffected siblings. A significant (p < 0.01) pairwise difference was found between each child with NF 1 and sibling on the Full Scale IQ and the Verbal IQ. On a single visuospatial test, Judgement of Line Orientation, children with NF 1 did significantly worse than siblings (p < 0.01). Children with NF 1 had significant learning disabilities in written language and reading (p < 0.05) and in neuromotor dysfunction (p < 0.005) compared with siblings. A significant correlation was found between the pairwise lowering of the Full Scale IQ and Judgment of Line Orientation scores in children with NF 1 and the number of locations in which, on magnetic resonance imaging, T2-weighted hyperintensities were seen (Full Scale IQ: p < 0.0003; Judgment of Line Orientation score: p < 0.02). We conclude that NF 1 is associated with a significantly lower Full Scale IQ, multifocal cognitive deficits (Verbal IQ, Judgment of Line Orientation score), reading disability, and neuromotor deficit. Pairwise cognitive differences correlated with the number of brain lesions on magnetic resonance imaging.


Subject(s)
Intelligence/genetics , Learning Disabilities/genetics , Neurofibromatosis 1/psychology , Adolescent , Analysis of Variance , Attention Deficit Disorder with Hyperactivity/genetics , Brain/anatomy & histology , Child , Female , Humans , Magnetic Resonance Imaging , Male , Neurofibromatosis 1/genetics , Neuropsychological Tests , Phenotype
13.
Am J Med Genet ; 50(1): 1-11, 1994 Mar 01.
Article in English | MEDLINE | ID: mdl-8160745

ABSTRACT

With the identification of the cystic fibrosis (CF) gene and its major mutations in 1989, there has been considerable debate among health professionals as to whether population-based carrier testing should be instituted. This paper presents the results of a survey to determine the attitudes of physicians and genetics professionals toward CF carrier testing. Factors associated with differences in attitudes also were examined. A questionnaire was mailed to primary care physicians and psychiatrists in 10 states who graduated from medical school between 1950 and 1985. For comparison, medical geneticists and genetic counselors in the same states also received the questionnaire. A total of 1,140 primary care physicians and psychiatrists (64.8%) and 280 medical geneticists and genetic counselors (79.1%) responded. Although 92% of respondents believed that a couple should be tested after asking about a test that detected 80% of carriers, only 43.9% of respondents believed such a test should be offered routinely. Those specialists most likely to have been involved in genetic services were most opposed to routine screening. The most important reason reported for opposition to routine screening was the consequences of an 80% detection rate. When presented with a hypothetical "error-free" test, 75.9% of respondents favored routine testing. Our findings suggest that there was little support for routinely offering the CF carrier test available at the time of this study among the physicians and professionals most involved in the provision of genetic services.


Subject(s)
Attitude of Health Personnel , Cystic Fibrosis/genetics , Genetic Carrier Screening , Genetic Testing/psychology , Chi-Square Distribution , Cystic Fibrosis/prevention & control , Female , Genetics, Medical , Humans , Logistic Models , Male , Odds Ratio , Physicians/psychology , Surveys and Questionnaires , Uncertainty
14.
Am J Med Genet ; 49(3): 299-301, 1994 Feb 01.
Article in English | MEDLINE | ID: mdl-8209889

ABSTRACT

There is little information available as to how individuals with genetic disorders receive information about the availability of DNA tests and what effect this has on their utilization. The purpose of this study was to survey centers where some individuals with neurofibromatosis type 1 (NF 1) are cared for, to establish how this type of information was disseminated. In 1990 announcement of the availability of testing for familial NF 1 was published in a newsletter of the National Neurofibromatosis Foundation (NNFF) and sent to individuals with NF 1 or NF 2 and their families, professionals, and NF centers in North America. Two years later these centers were surveyed to determine whether they had notified their patients of test availability. Of the 46 responding centers, 65% indicated they had attempted to notify their patients. The majority (80%) notified patients on an individual basis in clinic. The rest did so either on an individual basis in the clinic or by telephone or by letter or by a combination of these. Based on a survey response rate of 56% and approximately 1,000 enquiries received by the NNFF from families and physicians, it is concluded that 1) factors other than knowledge of test availability determined whether DNA testing for NF 1 was utilized; 2) some centers used testing more frequently than others; 100% of the referrals came from 40% of the centers, with 15% of referrals coming from a single center; 3) a significant percentage (35%) of NF centers did not inform their patients that DNA testing was available.


Subject(s)
DNA/genetics , Genetic Techniques , Information Services , Neurofibromatosis 1/diagnosis , Neurofibromatosis 1/genetics , DNA Mutational Analysis , Female , Genetic Counseling , Genetic Techniques/statistics & numerical data , Humans , Periodicals as Topic , Pregnancy , Prenatal Diagnosis/statistics & numerical data , United States
15.
Am J Public Health ; 83(11): 1599-603, 1993 Nov.
Article in English | MEDLINE | ID: mdl-8238685

ABSTRACT

OBJECTIVES: This study assessed efforts to increase response rates to a mailed physician survey and examined whether, as a result, nonresponse bias was reduced. METHODS: Randomly selected physicians and geneticists were mailed a questionnaire concerning genetics knowledge and attitudes. In the final but not the pilot survey, a $25 incentive and intensive follow-up were used to increase the response rate. RESULTS: The response rate from physicians in the final survey was 64.8% (n = 1140), compared with 19.6% in the pilot test (n = 69). Sample representatives in sociodemographic and practice characteristics was improved by follow-up. Respondents recruited with more difficulty did not differ on the principal outcome variable, genetics knowledge, except on one subscore. Pilot study and final survey respondents did not differ in knowledge. CONCLUSIONS: Although the effect of increased response rates on the principal outcome variable in this study was minimal, this may not be the case for other studies. Every effort should be made to attain as high a response rate as is practical and to establish that respondents are representative of the population being sampled.


Subject(s)
Physicians , Surveys and Questionnaires , Adult , Female , Genetics, Medical , Health Knowledge, Attitudes, Practice , Humans , Logistic Models , Male , Middle Aged , Pilot Projects , Selection Bias
16.
Arch Fam Med ; 2(11): 1119-25, 1993 Nov.
Article in English | MEDLINE | ID: mdl-8124486

ABSTRACT

OBJECTIVE: To determine, by response to a scenario, how willing primary care physicians would be to counsel a couple about prenatal diagnosis of cystic fibrosis and how directive they would be about whether the couple should undergo prenatal diagnosis and whether the couple should terminate the pregnancy if the fetus is affected. DESIGN: Survey of a random sample of primary care physicians, psychiatrists, and genetics professionals in 10 geographically representative states. RESPONDENTS: Sixty-five percent (N = 1140) of 1759 obstetricians, pediatricians, internists, family practitioners, and psychiatrists, and 79% (N = 280) of medical geneticists and genetic counselors. OUTCOMES AND RESULTS: Respondents were evenly divided on whether they would counsel about prenatal diagnosis or refer to a genetic counselor (49.4% and 50.6%, respectively). Those who indicated that they would counsel were likely to have greater knowledge about genetics, greater confidence in communicating about genetics, and higher tolerance for ambiguity and were more likely to have completed their medical training since 1971 and to practice in a rural area. Forty-four percent of physicians would give an opinion about prenatal diagnosis. Men would be more likely to give an opinion than women (P < .005). Only 9.6% of respondents would give an opinion regarding abortion. These respondents were more likely to come from specialties with less exposure to genetics and to value attendance at religious services. Primary care physicians were more likely to give their opinions about prenatal diagnosis and abortion than genetics professionals. CONCLUSIONS: To the extent that attitudes are reflected in practice, genetic counseling may be more directive when provided by primary care physicians than by genetics professionals, unless primary care physicians' growing involvement in genetics changes their attitudes.


Subject(s)
Genetic Counseling , Primary Health Care , Abortion, Eugenic , Attitude of Health Personnel , Communication , Female , Genetic Diseases, Inborn , Humans , Male , Medicine , Paternalism , Personal Autonomy , Physician's Role , Physicians, Family , Pregnancy , Prenatal Diagnosis , Referral and Consultation , Specialization
17.
Acad Med ; 68(8): 625-32, 1993 Aug.
Article in English | MEDLINE | ID: mdl-8352875

ABSTRACT

PURPOSE: To assess primary care physicians' and psychiatrists' knowledge of genetics and genetic tests and the factors associated with differences in these physicians' knowledge. METHOD: Questionnaires were mailed in 1991 to 1,795 primary care physicians (family physicians, internists, pediatricians, obstetrician-gynecologists) and psychiatrists who had graduated from medical school between 1950 and 1985 (67.6% of the sample had graduated after 1970) and who were members of professional societies. The questions elicited demographic and practice characteristics as well as knowledge of genetics concepts and facts and awareness of the availability of genetic tests. To validate the questionnaire, 360 medical geneticists and genetic counselors received questionnaires. Statistical analysis involved arc-sine function transformation, t-tests, analyses of variance, F-tests, Tukey's HSD, and stepwise multiple regression. RESULTS: A total of 1,140 (64.8%) of the non-geneticist physicians responded. They correctly answered an average of 73.9%, SD, 13.9%, of the knowledge items, compared with 94.6%, SD, 4.2%, for the genetics professionals (p < .001). The most significant predictors of knowledge were recency of graduation from medical school and practicing in primary care specialties in which exposure to genetics problems is likely. Other significant predictors (from most to least important) were graduation from a U.S. medical school, willingness to adopt a new predictive test before it becomes standard practice, not using pharmaceutical companies as a source of information about new medical practices, and taking a required genetics course in medical school. CONCLUSIONS: The results suggest that knowledge of genetics and genetic tests is increasing among physicians, particularly among more recent graduates and physicians who are exposed to genetics problems in their practices, but deficiencies remain. Although a medical school course in genetics may improve knowledge, it is not sufficient. Greater emphasis is needed at all levels of medical education to reduce the chance of physician error as more genetic tests become available.


Subject(s)
Educational Measurement , Genetic Techniques , Genetics, Medical/education , Physicians, Family/education , Psychiatry/education , Analysis of Variance , Certification , Curriculum , Diffusion of Innovation , Education, Medical , Education, Medical, Continuing/methods , Foreign Medical Graduates/statistics & numerical data , Physicians, Family/statistics & numerical data , Practice Management, Medical/organization & administration , Practice Patterns, Physicians'/statistics & numerical data , Psychiatry/statistics & numerical data , Regression Analysis , Specialization , Surveys and Questionnaires , United States
19.
Am J Med Genet ; 44(5): 664-7, 1992 Nov 15.
Article in English | MEDLINE | ID: mdl-1481830

ABSTRACT

Epidermal nevi are typically congenital but rarely familial. We report on a family in which 3 relatives have systematized epidermal nevi. The propositus also has evidence of a hemangioma and a hemangioendothelioma. Peripheral blood and skin fibroblast karyotypes of the propositus did not show evidence of mosaicism. Epidermal nevi have been associated with nondermatologic pathology, involving the nervous, vascular, and skeletal systems in sporadic cases. This report demonstrates that nondermatologic pathology can be also be associated with systematized epidermal nevi in a familial setting. The apparent skipping of generations may be explained by autosomal dominant inheritance with decreased penetrance.


Subject(s)
Nevus, Pigmented/genetics , Skin Neoplasms/genetics , Abdominal Neoplasms/complications , Abdominal Neoplasms/surgery , Adult , Female , Hemangioendothelioma/complications , Hemangioendothelioma/surgery , Hemangioma , Humans , Infant , Male , Nevus, Pigmented/complications , Nevus, Pigmented/diagnosis , Pedigree , Skin Neoplasms/complications , Skin Neoplasms/diagnosis , Thoracic Neoplasms/complications , Thoracic Neoplasms/surgery
20.
J Pediatr ; 120(3): 394-8, 1992 Mar.
Article in English | MEDLINE | ID: mdl-1347082

ABSTRACT

To determine how DNA testing for familial neurofibromatosis type 1 (NF-1) would be used in a clinical setting by patients and physicians, we performed confirmatory DNA testing on 24 individuals with a family history of NF-1 and on nine couples who requested DNA testing for current or future prenatal diagnosis. A further eight families were unsuitable for DNA linkage testing because of their pedigree structure. For the majority of persons the certainty of the test result was 95% to 99%. In five individuals, only one of whom was less than 6 years of age, the DNA-based diagnosis was discrepant with the clinical diagnosis at the time of referral. In all five cases, results of subsequent clinical re-examinations were consistent with the DNA diagnosis. We conclude that DNA testing by linkage analysis may be most useful as an adjunct to the clinical diagnosis of familial NF-1 (1) in children less than 6 years of age in whom the full manifestations may not yet be apparent, (2) in NF-1 families interested in prenatal testing, and (3) when the resources available for a complete clinical examination are limited.


Subject(s)
Genetic Markers , Neurofibromatosis 1/diagnosis , Adolescent , Adult , Aged , Child , Child, Preschool , DNA/analysis , Female , Genes, Neurofibromatosis 1 , Genetic Linkage , Genetic Testing , Humans , Infant , Male , Middle Aged , Neurofibromatosis 1/genetics , Polymorphism, Restriction Fragment Length
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