Quality in genetic counselling for presymptomatic testing — clinical guidelines for practice across the range of genetic conditions

Skirton, Heather; Goldsmith, Lesley; Jackson, Leigh; Tibben, Aad

doi:10.1038/ejhg.2012.174

Cited by 55 publications

(59 citation statements)

References 28 publications

(34 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…13 Our telegenetics application was an example of interactive telemedicine, substituting the setting of care by introducing online genetic counseling at patients' homes instead of counseling at the OPD of our university center, with the same genetic professionals and content of care as in conventional genetic counseling, as current professional guidelines and the professionals' view recommend. 14,15 The results showed that our application was feasible that patients were satisfied with the online counseling, with its efficiency, and with the specific online application we used. Levels of anxiety and personal perceived control of online patients and controls were comparable, thereby demonstrating equivalence of online counseling and regular OPD counseling from the patients' perspective.…”

Section: Introductionmentioning

confidence: 88%

Online genetic counseling from the providers’ perspective: counselors’ evaluations and a time and cost analysis

et al. 2016

View full text Add to dashboard Cite

Telemedicine applications are increasingly being introduced in patient care in various disciplines, including clinical genetics, mainly to increase access to care and to reduce time and costs for patients and professionals. Most telegenetics reports describe applications in large geographical areas, showing positive patients' and professionals' satisfaction. One economic analysis published thus far reported lower costs than in-person care. We hypothesized that telegenetics can also be beneficial from the professional's view in relatively small geographical areas. We performed a pilot study in the Northern Netherlands of 51 home-based online counseling sessions for cardiogenetic and oncogenetic cascade screening, and urgent prenatal counseling. Previously, we showed patient satisfaction, anxiety, and perceived control of online counseling to be comparable to in-person counseling. This study focuses on expectations, satisfaction, and practical evaluations of the involved counselors, and the impact in terms of time and costs. Most counselors expected disadvantages of online counseling for themselves and their patients, mainly concerning insufficient non-verbal communication; few expected advantages for themselves. Afterwards, counselors additionally raised the disadvantage of insufficient verbal communication, and reported frequent technical problems. Their overall mean telemedicine satisfaction itemscore was 3.38 before, and 2.95 afterwards, being afterwards slightly below the minimum level we set for a satisfactory result. We estimated reduced time and costs by online counseling with about 8% and 10-12%, respectively. We showed online genetic counseling to be effective, feasible and cost-efficient, but technical improvements are needed to increase counselors' satisfaction.

show abstract

Section: Introductionmentioning

confidence: 88%

Online genetic counseling from the providers’ perspective: counselors’ evaluations and a time and cost analysis

et al. 2016

View full text Add to dashboard Cite

show abstract

“…Along these years, the empirical experience together with the revisions of international guidelines (Sequeiros et al 2010a;Sequeiros et al 2010b;HDSA 2012;Rodrigues et al 2012;Skirton et al 2013;Macleod et al 2013) led us to make some changes to the program which are under the scope of the present paper.…”

Section: Methodsmentioning

confidence: 99%

“…Some authors consider that multiple in-person appointments may contravene the principle of justice and fair resource allocation . Additionally, it has been more and more accepted that the adjustment of the protocol extention on a Bcase by case^basis attending to the discussion of the needs and expectations of every consultand are relevant aspects for an effective counseling practice in the context of PST for late onset neurodegenerative diseases (Guimarães et al 2013;Skirton et al 2013;Paneque et al 2014).…”

Section: Redesigning the Presymptomatic Testing Protocolmentioning

confidence: 99%

SCA2 predictive testing in Cuba: challenging concepts and protocol evolution

Mariño¹,

Vázquez‐Mojena

Velázquez‐Pérez

et al. 2015

J Community Genet

View full text Add to dashboard Cite

Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease caused by a CAG repeat expansion in the ATXN2 gene. Cuba has the highest prevalence (6.57 cases/10 5 inhabitants) of SCA2 in the world. The existence of 753 affected individuals and 7173 relatives at risk prompted the development in 2001 of the first predictive testing program in the country. The medical records of over 1193 individuals, who requested the test within a 13-year period, were analyzed retrospectively. The presymptomatic and the prenatal tests had uptake rates of 43.4 and 23.9 %, respectively. Several ethical challenges resulted from this program. These include the following: (1) withdrawal due to the initial protocol's length; (2) the request to participate by 16 at-risk adolescents; (3) the decision made by ten out of 33 couples with a test-positive fetus to carry the pregnancy to term, leading to de facto predictive testing of minors; (4) the elevated frequency of the ATXN2 gene large normal alleles (≥23 to 31 repeats) in the reference population. These issues have led to major changes in the guidelines of the predictive testing protocol: (1) the protocol length was shortened; (2) the inclusion criteria were expanded to reach at-risk adolescents with an interest in prenatal diagnosis; (3) interdisciplinary follow-up was offered to families in which test-positive fetuses were not aborted; (4) prenatal testing was made available to carriers of large normal alleles with ≥27 CAG repeats. The profiles of the participants were similar to those reported for other predictive testing programs for conditions like Huntington disease and familial adenomatous polyposis. The genetic counseling practices at the community level, the ample health education provided to the at-risk population, together with multidisciplinary and specialized attention to the affected families, are lessons from the Cuban experience that can be relevant for other international teams conducting predictive testing for other late-onset neurodegenerative disorders.

show abstract

“…The Delphi method has been widely used in health-care research and has recently been used effectively in the area of genetic health services. 3 The rationale for choosing the Delphi approach to obtain group consensus for the identification, prioritisation of development of concepts related to a particular issue is well documented. 16 A common characteristic in descriptions of the method is the structuring of a communication process with a group of experts, where some feedback of individual contributions of information and knowledge is provided during successive rounds of data collection.…”

Section: Materials and Methods Designmentioning

confidence: 99%

“…[1][2][3] PST has gradually become more available to patients due to enhanced knowledge of the genetic cause of disease and available technologies. 4 Protocols for genetic counselling are well defined; however, there is a scarcity of literature regarding quality assessment of such counselling practice.…”

Section: Introductionmentioning

confidence: 99%

Quality issues concerning genetic counselling for presymptomatic testing: a European Delphi study

2015

Self Cite

View full text Add to dashboard Cite

Genetic counselling for presymptomatic testing is complex, bringing both ethical and practical questions. There are protocols for counselling but a scarcity of literature regarding quality assessment of such counselling practice. Generic quality assessment tools for genetic services are not specific to presymptomatic testing (PST). Therefore, the aim of this study was to identify aspects of effective counselling practice in PST for late-onset neurological disorders. We used the Delphi method to ascertain the views of relevant European experts in genetic counselling practice, ascertained via published literature and nomination by practitioners. Ethical approval was obtained. Questionnaires were sent electronically to a list of 45 experts, (Medical Doctors, Geneticists, Genetic Counsellors and Genetic Nurses), who each contributed to one to three rounds. In the first round, we provided a list of relevant indicators of quality of practice from a literature review. Experts were requested to evaluate topics in four domains: (a) professional standards; (b) service standards; (c) the consultant's perspective; and (d) protocol standards. We then removed items receiving less than 65% approval and added new issues suggested by experts. The second round was performed for the refinement of issues and the last round was aimed at achieving final consensus on high-standard indicators of quality, for inclusion in the assessment tool. The most relevant indicators were related to (1) consultant-centred practice and (2) advanced counselling and interpersonal skills of professionals. Defined high-standard indicators can be used for the development of a new tool for quality assessment of PST counselling practice.

show abstract

Quality in genetic counselling for presymptomatic testing — clinical guidelines for practice across the range of genetic conditions

Cited by 55 publications

References 28 publications

Online genetic counseling from the providers’ perspective: counselors’ evaluations and a time and cost analysis

Online genetic counseling from the providers’ perspective: counselors’ evaluations and a time and cost analysis

SCA2 predictive testing in Cuba: challenging concepts and protocol evolution

Quality issues concerning genetic counselling for presymptomatic testing: a European Delphi study

Contact Info

Product

Resources

About