ArticleJournal of genetic counseling2007
Improving service evaluation in clinical genetics: identifying effects of genetic diseases on individuals and families.
Article in Journal of genetic counseling, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed.
- Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals.Frontiers in veterinary science · 2024Article
- Development of FOCUS-GC: Framework for Outcomes of Clinical Communication Services in Genetic Counseling.Journal of genetic counseling · 2018Article
- Exploring the feasibility of delivering standardized genomic care using ophthalmology as an example.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- The COMET Handbook: version 1.0.Trials · 2017Review
- Genetics Health Professionals' Views on Quality of Genetic Counseling Service Provision for Presymptomatic Testing in Late-Onset Neurological Diseases in Portugal: Core Components, Specific Challenges and the Need for Assessment Tools.Journal of genetic counseling · 2015Article
- The Long and Short of Genetic Counseling Summary Letters: A Case-control Study.Journal of genetic counseling · 2015Article
- Collating the knowledge base for core outcome set development: developing and appraising the search strategy for a systematic review.BMC medical research methodology · 2015Article
- From constraints to opportunities? Provision of psychosocial support in portuguese oncogenetic counseling services.Journal of genetic counseling · 2013Article
- Are family-oriented interventions in Portuguese genetics services a remote possibility? Professionals' views on a multifamily intervention for cancer susceptibility families.Journal of community genetics · 2012Article
- Families' experience of oncogenetic counselling: accounts from a heterogeneous hereditary cancer risk population.Familial cancer · 2012Article
- Concerns about inherited risk of breast cancer prior to diagnosis in Japanese patients with breast complaints.Familial cancer · 2011Article
- Empowerment: qualitative underpinning of a new clinical genetics-specific patient-reported outcome.European journal of human genetics : EJHG · 2011Article
- Family matters: examining a multi-family group intervention for women with BRCA mutations in the scope of genetic counselling.Journal of community genetics · 2010Article
- Decision-making about inherited cancer risk: exploring dimensions of genetic responsibility.Journal of genetic counseling · 2009Article
- Living at risk: the sibling's perspective of early-onset Alzheimer's disease.Journal of genetic counseling · 2009Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
Abstract
Outcome measurement in clinical genetics is challenging. Outcome attributes used currently have been developed by service providers or adapted from measures used in other areas of healthcare. Many of the 'patients' in clinical genetics are healthy but at risk of developing or transmitting a condition. Usually no pharmacological or surgical treatment is offered, although information-giving is an objective of most consultations. We argue that services should be evaluated on the basis of how well they alleviate the effects of disease, from a patient perspective. This paper describes a qualitative study using seven focus groups with health professionals, patients and patient representatives. Social and emotional effects of genetics diseases were identified. Some differences emerged between the effects identified by health professionals and those identified by patients. These findings will be used to inform the evaluation of existing outcome measures and develop robust measures of outcome for clinical genetics services.
Indexed as
Identifiers
17295055What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.