Anita O'Connor

Direct-to-consumer genomic testing: systematic review of the literature on user perspectives

Genetic tests have traditionally been offered by health professionals. However, genomic tests have been available direct to the consumer for the last decade, increasingly via the Internet. The aim of this systematic review was to ascertain the evidence concerning use of direct-to-consumer genomic testing from the consumer perspective. Primary research was identified using the search terms ‘direct-to-consumer’ and ‘genomic or genetic’ in six bibliographic databases and citation searching of findings. In all, 17 papers were reviewed: 3 qualitative and 14 quantitative. Findings indicate a low level of awareness of direct-to-consumer genomic testing and, because of the hypothetical nature of many studies, little evidence from users of such tests. Although potential users appear to be interested in information about their risks of developing common diseases, concerns were expressed about privacy of genetic risk information and the reliability of genomic tests. Consumers were anxious about the nature of the results. There appeared to be a preference to access genomic tests via a health professional, or to discuss the results and obtain advice from a health professional. Authors of only two papers recruited participants who had used direct-to-consumer tests and samples from the large quantitative studies were not representative of the population. These factors limit the value of the available evidence. However, we conclude that there is public interest in direct-to-consumer genomic tests, and that this is likely to result in an increased workload for a range of health professionals. We also consider that there are educational implications for both consumers and health professionals.

Direct to consumer genetic testing: a systematic review of position statements, policies and recommendations

Skirton H, Goldsmith L, Jackson L, O’Connor A. Direct to consumer genetic testing: a systematic review of position statements, policies and recommendations.

Incidental findings in genetic research and clinical diagnostic tests: a systematic review.

Incidental findings arise when clinically relevant genetic information about a research participant or patient is identified outside the scope of the original research objective or diagnostic test being performed. These findings can relate to carrier status for a heritable condition, misattributed paternity or increased susceptibility to a medical condition. The decision whether to disclose these findings to the research subject or patient is underpinned by many ethical, moral, and potentially legal considerations. There is an urgent need for definitive guidelines for researchers and healthcare professionals. We performed a systematic review of the relevant literature concerning the disclosure of incidental findings, based on the Preferred Reporting Items for Systematic Reviews and Meta‐Analyses recommendations, using the prescribed flowchart and checklist. At initial screening, 473 articles were retrieved. The inclusion and exclusion criteria aimed at obtaining data that were relevant and of sufficient quality were applied and a total of four relevant studies were identified, comprising 2,680 individual participants and 1,023 guidance documents. Major themes emerging from the included articles include patient autonomy, patient welfare, harmful secrets, and genetic literacy. The lack of relevant studies emphasizes the urgent need for empirical investigations into the disclosure or non‐disclosure of genetic incidental findings, and the provision of guidelines to assist healthcare professionals and researchers.

The Experiences of Specialist Nurses Working Within the Uro-oncology Multidisciplinary Team in the United Kingdom.

Purpose: United Kingdom prostate cancer nursing care is provided by a variety of urology and uro-oncology nurses. The experience of working in multidisciplinary teams (MDT) was investigated in a national study. Design: The study consisted of a national survey with descriptive statistics and thematic analysis. Methods: A secondary analysis of a data subset from a UK whole population survey was undertaken (n = 285) of the specialist nursing workforce and the services they provide. Data were collected on the experience of working in the MDT. Results: Forty-five percent of the respondents felt that they worked in a functional MDT, 12% felt that they worked in a dysfunctional MDT, and 3.5% found the MDT meeting intimidating. Furthermore, 34% of the nurses felt that they could constructively challenge all members of the MDT in meetings. Themes emerging from open-ended questions were lack of interest in nonmedical concerns by other team members, ability to constructively challenge decisions or views within the meeting, and little opportunity for patients’ wishes to be expressed. Conclusions: Despite expertise and experience, nurses had a variable, often negative, experience of the MDT. It is necessary to ensure that all participants can contribute and are heard and valued. More emphasis should be given to patients’ nonmedical needs.

A Delphi study to determine the European core curriculum for Master programmes in genetic counselling.

Genetic counsellors have been working in some European countries for at least 30 years. Although there are great disparities between the numbers, education, practice and acceptance of these professionals across Europe, it is evident that genetic counsellors and genetic nurses in Europe are working autonomously within teams to deliver patient care. The aim of this study was to use the Delphi research method to develop a core curriculum to guide the educational preparation of these professionals in Europe. The Delphi method enables the researcher to utilise the views and opinions of a group of recognised experts in the field of study; this study consisted of four phases. Phases 1 and 4 consisted of expert workshops, whereas data were collected in phases 2 and 3 (n=35) via online surveys. All participants in the study were considered experts in the field of genetic counselling. The topics considered essential for genetic counsellor training have been organised under the following headings: (1) counselling; (2) psychological issues; (3) medical genetics; (4) human genetics; (5) ethics, law and sociology; (6) professional practice; and (7) education and research. Each topic includes the knowledge, skills and attitudes required to enable genetic counsellors to develop competence. In addition, it was considered by the experts that clinical practice should comprise 50% of the educational programme. The core Master programme curriculum will enable current courses to be assessed and inform the design of future educational programmes for European genetic counsellors.

Patients’ experience of a regional allergy service

Background The principle reason for referral to specialist allergy clinics is to establish diagnoses and provide treatment plans to help patients manage their allergy. If patients do not accept, understand, or remember diagnoses or treatment, clinic visits may have been a waste of time. Few specialist allergy clinics follow up patients after diagnosis. Design and Methods This was a postal survey to assess patients’ i) perception of usefulness of specialist allergy clinic visits, ii) understanding of their allergy, iii) confidence in managing it, and iv) response to joining a regional online forum. Data for patients with confirmed allergy who attended the Peninsula Allergy Service (PAS) from 1998-2009 were extracted from consultant letters to general practitioners. Postal questionnaires were sent to 933 patients; 39% (336) responded. Results Two-thirds (63%) thought their clinic visit useful and resulted in them being more in control of their allergy; 9% thought it useful but they still had problems, 26% thought it had not been much use. One in six (16%, 55) respondents had major differences in their view of their allergy compared to that recorded by PAS. Over half (56%) had had further symptoms since their clinic visit and 120 patients, who were not confident in coping with their allergy, listed aspects of their lives that gave concern. Conclusions Specialist clinics need routine feedback from patients if they are to monitor their effectiveness and some better form of follow up for patients is needed to reinforce education and support patients. Public education is important. Significance for public health Although there is a great deal of information available about allergy on the Internet, in the media and via word of mouth from family and friends, unfortunately a fair proportion of this is misleading, inaccurate and even potentially dangerous. The main role of a specialist allergy service is the diagnosis and management of allergies and patient education during the consultation. This audit of patients diagnosed with type 1 allergy showed that a small but significant proportion may not have understood or accepted their diagnosis, others may not be confident in coping with their allergy, and over half had further symptoms after discharge from the clinic. The effectiveness of specialist allergy services will be diminished if there is no longer-term follow-up of patients. Public health education is also important so that patient expectations about the role of allergy services are realistic.