Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives

Rantanen, Elina; Hietala, Marja; Kristoffersson, Ulf; Nippert, Irmgard; Schmidtke, Jörg; Sequeiros, Jorge; Kääriäinen, Helena

doi:10.1038/ejhg.2008.93

Cited by 23 publications

(24 citation statements)

References 14 publications

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“…32 This review showed that the application of recontacting in clinical genetic practice was not usually regulated by legislation or mentioned in guidelines and needs further discussion. In addition, two papers referred to two other guidelines when addressing the duty to recontact, 28,34 but after careful scrutiny neither of these guidelines explicitly addressed the duty to recontact.…”

Section: Existing Guidelines On the Duty To Recontactmentioning

confidence: 98%

Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature

Otten

Plantinga

Birnie

et al. 2015

Genetics in Medicine

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Purpose: With rapid advances in genetic technologies, new genetic information becomes available much faster today than just a few years ago. This has raised questions about whether clinicians have a duty to recontact eligible patients when new genetic information becomes available and, if such duties exist, how they might be implemented in practice. Methods:We report the results of a systematic literature search on the ethical, legal, social (including psychological), and practical issues involved in recontacting former patients who received genetic services. We identified 1,428 articles, of which 61 are covered in this review. results:The empirical evidence available indicates that most but not all patients value being recontacted. A minority of (older) articles conclude that recontacting should be a legal duty. Most authors consider recontacting to be ethically desirable but practically unfeasible. Various solutions to overcome these practical barriers have been proposed, involving efforts of laboratories, clinicians, and patients.conclusion: To advance the discussion on implementing recontacting in clinical genetics, we suggest focusing on the question of in what situations recontacting might be regarded as good standard of care. To this end, reaching a professional consensus, obtaining more extensive empirical evidence, and developing professional guidelines are important.Genet Med advance online publication 11 December 2014

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Section: Existing Guidelines On the Duty To Recontactmentioning

confidence: 98%

Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature

Otten

Plantinga

Birnie

et al. 2015

Genetics in Medicine

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“…Given the severe outcome of most CDDs, and the availability of efficient techniques for gene scanning analysis, the request for prenatal diagnosis will increase in the next future. It is important that prenatal diagnosis would be associated to a careful multidisciplinary counseling to the families [54]. …”

Section: Molecular Diagnosismentioning

confidence: 99%

Congenital Diarrheal Disorders: An Updated Diagnostic Approach

Terrin¹,

Tomaiuolo

Passariello

et al. 2012

IJMS

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Congenital diarrheal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life. Infants with these disorders have frequently chronic diarrhea of sufficient severity to require parenteral nutrition. For most CDDs the disease-gene is known and molecular analysis may contribute to an unequivocal diagnosis. We review CDDs on the basis of the genetic defect, focusing on the significant contribution of molecular analysis in the complex, multistep diagnostic work-up.

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“…There are several developed countries outside the United States where the involvement of a genetic professional is required before initiating genetic testing (Rantanen et al, 2008). However, within the United States, no such requirements exist despite recommendations from several advisory committees and task forces regarding the importance of genetic counseling in the context of genetic testing for hereditary cancer (Oncology Nursing Society, 2009;U.S.…”

Section: Pal Et Almentioning

confidence: 99%

A Statewide Survey of Practitioners to Assess Knowledge and Clinical Practices Regarding Hereditary Breast and Ovarian Cancer

Pal

Cragun

Lewis

et al. 2013

Genetic Testing and Molecular Biomarkers

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Purpose: This study describes practitioner knowledge and practices related to BRCA testing and management and explores how training may contribute to practice patterns. Methods: A survey was mailed to all BRCA testing providers in Florida listed in a publicly available directory. Descriptive statistics characterized participants and their responses. Results: Of the 87 respondents, most were community-based physicians or nurse practitioners. Regarding BRCA mutations, the majority (96%) recognized paternal inheritance and 61% accurately estimated mutation prevalence. For a 35-year-old unaffected BRCA mutation carrier, the majority followed national management guidelines. However, 65% also recommended breast ultrasonography. Fewer than 40% recognized the need for comprehensive rearrangement testing when BRACAnalysis Ò was negative in a woman at 30% risk. Finally, fewer than 15% recognized appropriate testing for a BRCA variant of uncertain significance. Responses appeared to be positively impacted by presence and type of cancer genetics training. Conclusions: In our sample of providers who order BRCA testing, knowledge gaps in BRCA prevalence estimates and appropriate screening, testing, and results interpretation were identified. Our data suggest the need to increase regulation and oversight of genetic testing services at a policy level, and are consistent with case reports that reveal liability risks when genetic testing is conducted without adequate knowledge and training.

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Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives

Cited by 23 publications

References 14 publications

Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature

Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature

Congenital Diarrheal Disorders: An Updated Diagnostic Approach

A Statewide Survey of Practitioners to Assess Knowledge and Clinical Practices Regarding Hereditary Breast and Ovarian Cancer

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