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BMJ (Clinical Research Ed.) Oct 1988The development of a molecular genetics diagnostic service over a three year period was studied in a National Health Service region with a population of three million....
The development of a molecular genetics diagnostic service over a three year period was studied in a National Health Service region with a population of three million. Starting from a time when few diagnostic applications were possible, the number of disorders and the overall demand had grown rapidly. Conditions for which molecular genetic diagnosis had been provided included Duchenne and Becker muscular dystrophy, myotonic dystrophy, Huntington's disease, and cystic fibrosis. Of 405 requests for diagnosis, 151 (37%) related to determination of carrier state, 187 (46%) to determining the feasibility of future prenatal diagnosis, and 67 (17%) were prenatal diagnostic biopsy samples, almost exclusively of first trimester chorion. DNA samples for future diagnostic use with a wide range of genetic disorders had also been banked. The study showed a need for close integration with clinical genetics services to allow satisfactory genetic counselling and interpretation of risks.
Topics: Cystic Fibrosis; DNA; Diagnostic Services; Female; Fetal Diseases; Genetic Carrier Screening; Genetic Counseling; Humans; Huntington Disease; Muscular Dystrophies; Myotonic Dystrophy; Pregnancy; Prenatal Diagnosis; Risk Factors; Wales
PubMed: 2972330
DOI: 10.1136/bmj.297.6652.843 -
The New Zealand Medical Journal Mar 1990We describe the use of techniques of DNA analysis for the diagnosis of certain inherited diseases during life and in the prenatal period, and for the diagnosis of some... (Comparative Study)
Comparative Study
We describe the use of techniques of DNA analysis for the diagnosis of certain inherited diseases during life and in the prenatal period, and for the diagnosis of some infectious diseases. Most local and some national needs for predictive genetic testing have been met. The costs of establishing our service are presented and are compared with those of similar services recently established in the United Kingdom. In the 12 month period described, running costs were approximately $57,000 and salaries for the two scientific officers and the medical technologist required to run the service were $97,000. The prerequisites for the successful running of such a service are discussed.
Topics: Costs and Cost Analysis; DNA; Diagnostic Services; Evaluation Studies as Topic; Humans; Muscular Dystrophies; New Zealand; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length
PubMed: 1969132
DOI: No ID Found -
Drug Safety Jul 2014The pharmacy profession has undergone substantial change over the last two to three decades. Whilst medicine supply still remains a central function, pharmacist's roles... (Review)
Review
The pharmacy profession has undergone substantial change over the last two to three decades. Whilst medicine supply still remains a central function, pharmacist's roles and responsibilities have become more clinic and patient focused. In the community (primary care), pharmacists have become important providers of healthcare as Western healthcare policy advocates patient self-care. This has resulted in pharmacists taking on greater responsibility in managing minor illness and the delivery of public health interventions. These roles require pharmacists to more fully use their clinical skills, and often involve diagnosis and therapeutic management. Community pharmacists are now, more than ever before, in a position to identify, record and report medication safety incidents. However, current research suggests that diagnostic ability of community pharmacists is questionable and they infrequently report to local or national schemes. The aim of this paper is to highlight current practice and suggest ways in which community pharmacy can more fully contribute to patient safety.
Topics: Clinical Competence; Community Pharmacy Services; Diagnostic Services; Patient Safety; Pharmacists; Pharmacovigilance; Professional Role
PubMed: 24951945
DOI: 10.1007/s40264-014-0191-6 -
Journal of Clinical Oncology : Official... Mar 2004This systematic review was undertaken to identify clinical and economic evaluations of diagnostic assessment units for cancer; summarize measures used to evaluate such... (Review)
Review
PURPOSE
This systematic review was undertaken to identify clinical and economic evaluations of diagnostic assessment units for cancer; summarize measures used to evaluate such programs; and discuss the strengths and weaknesses of these evaluations.
METHODS
The review was conducted to identify randomized controlled trials, case control studies, and prospective or retrospective cohort studies examining the outcomes of diagnostic centers for patients with a presumptive diagnosis of breast, colorectal, lung, head and neck, or prostate cancer. Data on methodology and study results were tabulated.
RESULTS
Twenty articles were eligible for review. Eleven studies examined outcomes associated with breast cancer assessment units: six with head and neck assessment units and three with colorectal assessment units. No studies were found that examined one-stop diagnostic assessment centers for lung cancer or prostate cancer. Seventeen studies were case series, one was a case-control study, and two were randomized controlled trials. No thorough economic analyses have been undertaken. There were no studies that based their assessment on measures suggested by a conceptual framework or validated model of diagnostic care. Few studies explicitly based their investigations on established quality indicators or clinical practice guideline recommendations. Diagnostic assessment centers appear to decrease the time to arrive at a diagnosis, which in turn appears to decrease patient anxiety and increase patient satisfaction.
CONCLUSION
A comprehensive understanding of the benefit of diagnostic assessment centers can only be determined if such services are developed for a variety of disease sites and more rigorous evaluations are carried out to assess their benefit.
Topics: Diagnostic Services; Health Services Research; Humans; Neoplasms; Organizational Policy; Outcome and Process Assessment, Health Care; Research Design
PubMed: 15020615
DOI: 10.1200/JCO.2004.06.057 -
The Australasian Journal of Dermatology 1994
Topics: Diagnostic Services; Hair; Hair Diseases; Humans
PubMed: 7702493
DOI: 10.1111/j.1440-0960.1994.tb00902.x -
Health Affairs (Project Hope) 2009
Topics: Diagnosis, Differential; Diagnostic Services; Emergency Service, Hospital; Health Services Misuse; Herpes Zoster; Humans; Male
PubMed: 19738270
DOI: 10.1377/hlthaff.28.5.1509 -
Medical Economics Oct 1950
Topics: Diagnosis; Diagnostic Services; Health Facilities; Humans
PubMed: 14779533
DOI: No ID Found -
Fortune Jun 2014
Topics: California; Diagnostic Services; Hematologic Tests; Organizational Case Studies; Phlebotomy
PubMed: 25181811
DOI: No ID Found -
Voenno-meditsinskii Zhurnal Jul 2004
Review
Topics: Delivery of Health Care; Diagnostic Services; Humans; Military Medicine; Military Personnel; Quality Indicators, Health Care; Russia
PubMed: 15453130
DOI: No ID Found -
Neuromuscular Disorders : NMD Jun 2012The Dubowitz Neuromuscular Centre is the UK National Commissioning Group referral centre for congenital muscular dystrophy (CMD). This retrospective review reports the...
The Dubowitz Neuromuscular Centre is the UK National Commissioning Group referral centre for congenital muscular dystrophy (CMD). This retrospective review reports the diagnostic outcome of 214 UK patients referred to the centre for assessment of 'possible CMD' between 2001 and 2008 with a view to commenting on the variety of disorders seen and the relative frequency of CMD subtypes in this patient population. A genetic diagnosis was reached in 53 of 116 patients fulfilling a strict criteria for the diagnosis of CMD. Within this group the most common diagnoses were collagen VI related disorders (19%), dystroglycanopathy (12%) and merosin deficient congenital muscular dystrophy (10%). Among the patients referred as 'possible CMD' that did not meet our inclusion criteria, congenital myopathies and congenital myasthenic syndromes were the most common diagnoses. In this large study on CMD the diagnostic outcomes compared favourably with other CMD population studies, indicating the importance of an integrated clinical and pathological assessment of this group of patients.
Topics: Adolescent; Adult; Child; Child, Preschool; Diagnostic Services; Female; Genetic Testing; Humans; Infant; Male; Muscular Dystrophies; Retrospective Studies; United Kingdom
PubMed: 22480491
DOI: 10.1016/j.nmd.2012.01.010