ArticleEuropean journal of human genetics : EJHG2013
Quality in genetic counselling for presymptomatic testing--clinical guidelines for practice across the range of genetic conditions.
Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review.Journal of neurology · 2022Pooled it
- The use of heuristics in genetic testing decision-making: A qualitative interview study.PloS one · 2021Trial
- 24-Hour Movement Behaviour and Health Awareness as Possible Predictors of Infertility-Related Quality of Life.Journal of clinical medicine · 2025Article
- X-Linked Adrenoleukodystrophy in a Moroccan Patient: Genetic Diagnosis Leads to Presymptomatic Testing and Family Counseling.Balkan journal of medical genetics : BJMG · 2025Article
- Mental Health Care for Children with Heart Disease and Their Families: Practical Approaches and Considerations for the Pediatric and Pediatric Cardiology Clinician.Pediatric cardiology · 2025Review
- Need for specially designed educational support groups: Young women's experiences of being identified with BRCA pathogenic variants.Journal of genetic counseling · 2025Article
- Integrating BRCA testing into routine prostate cancer care: a multidisciplinary approach by SIUrO and other Italian Scientific Societies.BMC cancer · 2025Article
- The potential clinical and public health implications of presymptomatic genetic testing for transthyretin amyloidosis in African American/Black adults in the United States.Frontiers in genetics · 2025Article
- Spontaneous uterine rupture revealing vascular Ehlers-Danlos syndrome: An uncommon case report.International journal of surgery case reports · 2022Article
- Understanding the Information Needs of Patients With Ovarian Cancer Regarding Genetic Testing to Inform Intervention Design: Interview Study.JMIR cancer · 2022Article
- Genetic counselling as a route to enhanced autonomy: using a sequential mixed methods research approach to develop a theory regarding presymptomatic genetic testing for young adults at risk of inherited cancer syndromes.Journal of community genetics · 2021Article
- Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus.Orphanet journal of rare diseases · 2020Article
- How the "control-fate continuum" helps explain the genetic testing decision-making process: a grounded theory study.European journal of human genetics : EJHG · 2020Article
- Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study.Journal of clinical medicine · 2020Article
- Group plus "mini" individual pre-test genetic counselling sessions for hereditary cancer shorten provider time and improve patient satisfaction.Hereditary cancer in clinical practice · 2020Article
- Choosing not to know: accounts of non-engagement with pre-symptomatic testing for Machado-Joseph disease.European journal of human genetics : EJHG · 2019Article
- Parents' views of genetic testing and treatment of familial hypercholesterolemia in children: a qualitative study.Journal of community genetics · 2019Article
- Discussions about predictive genetic testing for Lynch syndrome: the role of health professionals and families in decisions to decline.Familial cancer · 2018Article
- A53T in a parkinsonian family: a clinical update of the SNCA phenotypes.Journal of neural transmission (Vienna, Austria : 1996) · 2016Review
- Management of asymptomatic gene carriers of transthyretin familial amyloid polyneuropathy.Muscle & nerve · 2016Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Presymptomatic testing (PST) is the performance of a genetic test on an asymptomatic individual at risk of a condition to determine whether the person has inherited the disease-causing mutation. Although relevant guidelines exist for specific diseases, there is no overarching protocol that can be adapted to any disorder or clinical setting in which such testing is offered. The objective of this European project was to develop a set of coherent guidelines for PST (for adult-onset monogenic conditions) for use by health professionals working in a range of disciplines, countries or contexts. To ensure the guidelines were appropriate and practice based, we organised a workshop attended by an expert group of practitioners with relevant health professional backgrounds from 11 countries. Models of service for offering PST were presented, the group then discussed different aspects of testing and the standard of care required to ensure that patients were prepared to make decisions and deal with results and consequences. After the workshop, several rounds of consultation were used with a wider group of professionals to refine the guidelines. The guidelines include general principles governing the offer of testing (eg, autonomous choice of the patient), objectives of genetic counselling in this context (eg, facilitation of decision making), logistical considerations (eg, use of trained staff) and topics to be included during counselling discussion with the patient (eg, consequences of both positive and negative outcomes). We recommend the adoption of these guidelines to provide an equitable structure for those seeking PST in any country.
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