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1.
Bradley LA Kloza EM Haddow PK Beauregard LJ Johnson JL Haddow JE 《Genetic testing》2007,11(3):291-295
DNA (and other) diagnostic tests are now available for a number of serious, but uncommon, fetal disorders. We designed and evaluated a screening system for this purpose in primary care, coupled with targeted information for practitioners and patients. We developed a 15-question family history form for completion by office staff or patients, addressing conditions for which definitive diagnosis was available, linked to secondary questionnaires to follow up on "yes" answers. Guidelines for assessing risk, follow-up recommendations, and information resources were also linked. Following pilot testing, this screening system was introduced throughout Maine. We enrolled 212 providers (85-90% of the state's pregnancies). In a subsequent survey, 85% of the practices were screening all new patients and 3% some; 12% did not use the system. Time for form completion averaged 7 min. Overall, provider satisfaction was 4.4 on a five-point scale. Patients responded favorably; a minority was anxious or overwhelmed. Total referral calls to Maine's genetic/perinatal centers did not increase, but calls about family history of genetic disorders or maternal conditions increased significantly. This screening system for guiding appropriate use of DNA (and other) testing in pregnancy can be used successfully in primary care. 相似文献
2.
... Despite the need for physicians to be knowledgeable about and open to advances in genetic technology, little is known about the level of preparedness of primary care physicians to offer new genetic tests. Evidence suggests that several barriers exist to physicians adopting genetic tests. These include lack of knowledge, inability to interpret probabilistic information, low tolerance for uncertainty, negative attitudes about their responsibility for genetic counseling and testing, lack of confidence in their clinical skills, and unfamiliarity with ethical issues raised by testing. This paper will explore some of these barriers in further depth, discuss the ethical impact of physician unpreparedness on both patient care and the diffusion of genetic tests, and describe a study that is currently underway to investigate some of these issues. 相似文献
3.
Information about a patient''s inherited risk of disease has important ethical and legal implications in clinical practice. Because genetic information is by nature highly personal yet familial, issues of confidentiality arise. Counselling and informed consent before testing are important in view of the social and psychological risks that accompany testing, the complexity of information surrounding testing, and the fact that effective interventions are often not available. Follow-up counselling is also important to help patients integrate test results into their lives and the lives of their relatives. Genetic counselling should be provided by practitioners who have up-to-date knowledge of the genetics of and the tests available for specific diseases, are aware of the social and psychological risks associated with testing, and are able to provide appropriate clinical follow-up. Some physicians may elect to refer patients for genetic counselling and testing. However, it is inevitable that all physicians will be involved in long-term follow-up both by monitoring for disease and by supporting the integration of genetic information into patients'' lives. 相似文献
4.
Pelman RS 《Reviews in urology》2004,6(Z1):S16-S23
As an increasing number of treatment options for urologic disorders become available, patients with these conditions are more often able to be managed in the primary care setting. Primary care physicians, therefore, must become more knowledgeable of the proper urologic terminology and the screening tools that have traditionally been used by urologists. To that end, this article reviews the terminology associated with lower urinary tract symptoms and describes the evaluation and treatment of patients presenting with these symptoms. The diagnoses of overactive bladder and prostatitis are discussed, as well as the therapeutic options available for these patients. 相似文献
5.
Recent research into the human genome has generated a wealth of scientific knowledge and increased both public and professional
interest in the concept of personalised medicine. Somewhat unexpectedly, in addition to increasing our understanding about
the genetic basis for numerous diseases, these new discoveries have also spawned a burgeoning new industry of ‘consumer genetic
testing’. In this paper, we present the principles learnt though the evaluation of tests for single gene disorders and suggest
a comparable framework for the evaluation of genetic tests for susceptibility to common complex diseases. Both physicians
and the general public will need to be able to assess the claims made by providers of genetic testing services, and ultimately
policy-makers will need to decide if and when such tests should be offered through state funded healthcare systems. 相似文献
6.
A substantial number of genetically determined biochemical disorders in infants and young children produce mental deficiency and serious ill health in early life. If these diseases are detected promptly, effective therapy can be instituted to prevent the development of mental defect, or, where no treatment is presently available, the parents can be given appropriate genetic counselling so that the birth of further affected children can be prevented.Eight simple urine screening tests are described which have proved useful in the early detection of metabolic disorders in apparently healthy infants. These tests can easily be performed by a physician or nurse without special training or elaborate equipment. The attention of general practitioners, pediatricians and public health physicians is directed to the real possibilities for preventing some forms of mental deficiency through the routine use of screening tests on urine and on blood. 相似文献
7.
Screening newborn infants for inherited disorders has been effective in preventing mental retardation, growth failure, and death from several metabolic disorders for more than two decades. Technical advances have provided more screening tools for both genetic and nongenetic conditions, and in the coming decades these techniques will be used not only to screen newborns but to assess genetic risks in entire populations. The financial, legal, and ethical issues which these activities raise must influence the development of public policies in order to reap the benefits promised. The conference published here was designed to address these issues for health care practitioners, health policy planners, and public health professionals. 相似文献
8.
Previous research has reported a lack of regular cancer screening among Chinese Americans. The overall objectives of this study were to use a mail survey of primary care physicians who served Chinese Americans in San Francisco to investigate: a) the attitudes, beliefs, and practices regarding breast, cervical, and colon cancer screening and b) factors influencing the use of these cancer screening tests. The sampling frame for our mail survey consisted of: a) primary care physicians affiliated with the Chinese Community Health Plan and b) primary care physicians with a Chinese surname listed in the Yellow Pages of the 1995 San Francisco Telephone Directory. A 5-minute, self-administered questionnaire was developed and mailed to 80 physicians, and 51 primary care physicians completed the survey. A majority reported performing regular clinical breast examinations (84%) and teaching their patients to do self-breast examinations (84%). However, the rate of performing Pap smears was only 61% and the rate of ordering annual mammograms for patients aged 50 and older was 63%. The rates of ordering annual fecal occult blood testing and sigmoidoscopy at regular intervals of three to five years among patients aged 50 and older were 69% and 20%, respectively. Barriers (patient-specific, provider-specific, and practice logistics) to using cancer screening tests were identified. The data presented in this study provide a basis for developing interventions to increase performance of regular cancer screening among primary care physicians serving Chinese Americans. Cancer screening rates may be improved by targeting the barriers to screening identified among these physicians. Strategies to help physicians overcome these barriers are discussed. 相似文献
9.
Discussions with every general practice, health visitor, and clinical medical officer in Northumberland Health Authority led to agreement about the content of preschool health surveillance, the ages at which it should be done, and referral pathways after a failed screening test. Each primary health care team now undertakes to do a basic minimum set of screening tests, and each team decides who in the team will do each test. The screening system agreed on should enable time to become available for the equally important aspects of surveillance--namely, developmental guidance, health education, and assessment and follow up of problems. The discussions also led to agreement about how the health authority should evaluate the effect of the surveillance programme on the health of children. 相似文献
10.
Presymptomatic testing is available since 15 years for Huntington disease and it is now possible for a number of other neurogenetic disorders, mostly neurodegenerative disorders. The possibility of determining the genetic status of an at-risk person for the disorder which run in his family raises questions because of the absence of preventive and curative treatments in most instances. In addition, being carrier does not tell you when the disease will start and how it will evolve, impairing the possibilities of planning the future. A pluridisciplinary approach to predictive testing with care before, during and after the test taking into account the medical, social and psychological aspects of the disease is good practice. At the present time, only a minority of at-risk individuals request presymptomatic testing and almost 50 % do not pursue until the results. The consequences of the test may be harmful, more frequently after an unfavorable than after a favorable result. Although the motivations and the outcome in terms of request for prenatal testing after a carrier result are different in Huntington's disease and spinocerebellar ataxias, our experience underlines the benefit of pluridisciplinary care and of time for decision taking. For other disorders like familial Alzheimer's disease, or familial Creutzfeldt-Jakob disease, the experience in presymptomatic testing is still limited but the situation seems similar to Huntington's disease because of the presence of dementia. It will be interesting to study the motivations and the outcome of the tests in disorders like autosomal dominant spastic paraplegias which usually do not reduce the life expectancy. Nevertheless, the overall situation might change greatly when efficient treatments will become available in these disorders. 相似文献
11.
Jeremiah Geronimo Ronquillo 《The Yale journal of biology and medicine》2012,85(3):379-386
Genetic testing is expected to play a critical role in patient care in the near
future. Advances in genomic research have the potential to impact medicine in
very tangible and direct ways, from carrier screening to disease diagnosis and
prognosis to targeted treatments and personalized medicine. However, numerous
barriers to widespread adoption of genetic testing continue to exist, and health
information technology will be a critical means of addressing these challenges.
Electronic health records (EHRs) are a digital replacement for the traditional
paper-based patient chart designed to improve the quality of patient care. EHRs
have become increasingly essential to managing the wealth of existing clinical
information that now includes genetic information extracted from the patient
genome. The EHR is capable of changing health care in the future by transforming
the way physicians use genomic information in the practice of medicine. 相似文献
12.
13.
Curtis E. Miller 《The Western journal of medicine》1967,107(5):385-390
The multiphasic testing center of the future will probably be used both for periodic screening tests and for referrals by practicing physicians. Recent widespread interest of several branches of the Federal Government in multiphasic screening stems from the possibility that, through its use, the enormous cost of chronic illness to the country may be reduced.Recent advances in automation and the storage, retrieval, and analysis of data by computers make it economically feasible to obtain much more information about the patient''s health than ever before. New instrument developments include both screening and diagnostic analysis of electrocardiograms by computers, analysis of heart sounds by computer, and a wide variety of other physiological and biochemical instruments.To allow for the inclusion and evaluation of these new procedures, a number of multiphasic testing centers will be needed which can do both research and routine testing. Close cooperation between the medical profession, the public health services and industry will be needed to best serve both the public and the medical profession. 相似文献
14.
In the coming years, molecular diagnostics will continue to be of critical importance to public health worldwide. It will facilitate the detection and characterization of disease, as well as monitoring of the drug response, and will assist in the identification of genetic modifiers and disease susceptibility. A wide range of molecular-based tests is available to assess DNA variation and changes in gene expression. However, there are major hurdles to overcome before the implementation of these tests in clinical laboratories, such as which test to employ, the choice of technology and equipment, and issues such as cost-effectiveness, accuracy, reproducibility, personnel training, reimbursement by third-party payers and intellectual property. At present, PCR-based testing predominates; however, alternative technologies aimed at reducing genome complexity without PCR are anticipated to gain momentum in the coming years. Furthermore, development of integrated chip devices ("lab-on-a-chip") should allow point-of-care testing and facilitate genetic readouts from single cells and molecules. Together with proteomic-based testing, these advances will improve molecular diagnostic testing and will present additional challenges for implementing such testing in health care settings. 相似文献
15.
Jyotsna Agnihotri Gupta 《Journal of bioethical inquiry》2007,4(3):217-228
Epidemiologists and geneticists claim that genetics has an increasing role to play in public health policies and programs
in the future. Within this perspective, genetic testing and screening are instrumental in avoiding the birth of children with
serious, costly or untreatable disorders. This paper discusses genetic testing and screening within the framework of eugenics
in the health care context of India. Observations are based on literature review and empirical research using qualitative
methods. I distinguish ‘private’ from ‘public’ eugenics. I refer to the practice of prenatal diagnosis as an aspect of private
eugenics, when the initiative to test comes from the pregnant woman herself. Public eugenics involves testing initiated by
the state or medical profession through (more or less) obligatory testing programmes. To illustrate these concepts I discuss
the management of thalassaemia, which I see as an example of private eugenics that is moving into the sphere of public eugenics.
I then discuss the recently launched newborn screening programme as an example of public eugenics. I use Foucault’s concepts
of power and governmentality to explore the thin line separating individual choice and overt or covert coercion, and between
private and public eugenics. We can expect that the use of genetic testing technology will have serious and far-reaching implications
for cultural perceptions regarding health and disease and women’s experience of pregnancy, besides creating new ethical dilemmas
and new professional and parental responsibilities. Therefore, culturally sensitive health literacy programmes to empower
the public and sensitise professionals need attention.
相似文献
Jyotsna Agnihotri GuptaEmail: |
16.
E R McCabe 《The Yale journal of biology and medicine》1991,64(1):9-14
Molecular genetic technology is diffusing from the research laboratory to the clinical laboratory, where it has already begun to influence prenatal diagnosis and counseling. In the very near future, this technology will be applied more generally, using population-based screening strategies. Pilot programs are beginning to evaluate the technical feasibility and efficacy of recombinant DNA techniques for newborn screening follow-up. DNA-based population screening is being considered for heterozygous carriers of an autosomal recessive disorder such as cystic fibrosis in order to identify carrier couples at risk of having an affected child. We will review the current DNA methodologies in the context of three genetic disorders: sickle-cell disease, Duchenne muscular dystrophy, and cystic fibrosis. We will then consider the requirements for implementation of these new technologies. We will conclude that implementation will require two key factors: machines and people. Machines are required to automate molecular genetic procedures, which are currently personnel-intensive, so that the expense can be reduced and the procedures made more cost-effective. The people who are required are health professionals knowledgeable in the clinical aspects of the target disorders, as well as in the DNA laboratory testing. These professionals will be able to facilitate sample acquisition and information exchange among the laboratory, the primary health care provider, and the families requesting consultation. 相似文献
17.
In an era of growing knowledge about genetics and health, primary-care physicians will have increasing responsibility for evaluating genetic risk and using genetic tests. Although most have little knowledge of genetics, their expertise in the prudent use of technology is relevant to the task. Successful educational programmes will need to forge partnerships between primary care and genetics. 相似文献
18.
Background
Clinical genetic testing is becoming an integral part of medical care for inherited disorders. While genetic testing and counseling are readily available in high-income countries, in low- and middle-income countries like Kenya genetic testing is limited and genetic counseling is virtually non-existent. Genetic testing is likely to become widespread in Kenya within the next decade, yet there has not been a concomitant increase in genetic counseling resources. To address this gap, we designed an interactive workshop for clinicians in Kenya focused on the genetics of the childhood eye cancer retinoblastoma. The objectives were to increase retinoblastoma genetics knowledge, build genetic counseling skills and increase confidence in those skills.Methods
The workshop was conducted at the 2013 Kenyan National Retinoblastoma Strategy meeting. It included a retinoblastoma genetics presentation, small group discussion of case studies and genetic counseling role-play. Knowledge was assessed by standardized test, and genetic counseling skills and confidence by questionnaire.Results
Knowledge increased significantly post-workshop, driven by increased knowledge of retinoblastoma causative genetics. One-year post-workshop, participant knowledge had returned to baseline, indicating that knowledge retention requires more frequent reinforcement. Participants reported feeling more confident discussing genetics with patients, and had integrated more genetic counseling into patient interactions.Conclusion
A comprehensive retinoblastoma genetics workshop can increase the knowledge and skills necessary for effective retinoblastoma genetic counseling. 相似文献19.
Broad genome‐wide testing is increasingly finding its way to the public through the online direct‐to‐consumer marketing of so‐called personal genome tests. Personal genome tests estimate genetic susceptibilities to multiple diseases and other phenotypic traits simultaneously. Providers commonly make use of Terms of Service agreements rather than informed consent procedures. However, to protect consumers from the potential physical, psychological and social harms associated with personal genome testing and to promote autonomous decision‐making with regard to the testing offer, we argue that current practices of information provision are insufficient and that there is a place – and a need – for informed consent in personal genome testing, also when it is offered commercially. The increasing quantity, complexity and diversity of most testing offers, however, pose challenges for information provision and informed consent. Both specific and generic models for informed consent fail to meet its moral aims when applied to personal genome testing. Consumers should be enabled to know the limitations, risks and implications of personal genome testing and should be given control over the genetic information they do or do not wish to obtain. We present the outline of a new model for informed consent which can meet both the norm of providing sufficient information and the norm of providing understandable information. The model can be used for personal genome testing, but will also be applicable to other, future forms of broad genetic testing or screening in commercial and clinical settings. 相似文献
20.
Nicolas Delvaux An De Sutter Stijn Van de Velde Dirk Ramaekers Steffen Fieuws Bert Aertgeerts 《Implementation science : IS》2017,12(1):147