Rhona MacLeod

Recommendations for the predictive genetic test in Huntington's disease

MacLeod R, Tibben A, Frontali M, Evers-Kiebooms G, Jones A, Martinez-Descales A, Roos RA and Editorial Committee and Working Group ‘Genetic Testing Counselling’ of the European Huntington Disease Network. Recommendations for the predictive genetic test in Huntington’s disease Clin Genet 2013: 83: 221–231.

Outcome measurement in clinical genetics services: a systematic review of validated measures.

OBJECTIVE This systematic review aimed to inform researchers and policymakers about what validated outcome measures are available to evaluate clinical genetics services (CGS) and the need for new measures. METHODS Validated outcome measures used to evaluate CGS were identified from a systematic literature review. Subjective outcome measures were assumed to have been validated only if some form of psychometric assessment was reported. RESULTS A total of 1688 titles and abstracts were identified, and 61 articles met the inclusion criteria for the final review, which covered 67 validated outcome measures. There were 37 nongenetics-specific and 30 genetics-specific measures identified. No single validated outcome measure encompassed all potential patient benefits from using a CGS. A variety of different domains were identified, including anxiety and depression, coping, decision-making, distress, family environment, health status, knowledge, mood, perception of risk, perceived personal control, psychological impact, quality of life, satisfaction and expectations, self-esteem, spiritual well-being, and worry. Some important aspects of patient benefit from CGS are not covered by existing outcome measures. CONCLUSIONS New research is necessary to develop the array of outcome measures required to quantify the benefits CGS offer patients living with the effects of genetic conditions. These need to be suitable for use in prospective evaluation studies to provide robust evidence for decision-makers to inform service development and commissioning. This includes prioritization of the existing validated outcome measures in terms of their usefulness and relevance to the measurement and valuation of patient benefits from a CGS.

Patient empowerment in clinical genetics services.

Outcome measurement in clinical genetics is problematic because the patient benefits are difficult to measure. The aim in this qualitative grounded theory study was to develop a theoretical framework describing the patient benefits from using clinical genetics services. Seven focus groups and 19 interviews were conducted with patients, patient group representatives, and health professionals. Data analysis resulted in construction of a model of empowerment summarizing the patient benefits from using clinical genetics services. Empowerment is similar to the concept of perceived personal control (PPC), and a measure of PPC has been developed for use in evaluations of clinical genetics services. However, empowerment includes some benefits not captured by PPC related to empowerment of other at risk relatives, and future generations.

The emotional effects of genetic diseases: Implications for clinical genetics†‡

The aim of this qualitative study was to explore the emotional effects that may be common to many genetic conditions, or risk of genetic conditions, that could be appropriately targeted by clinical genetics services. The study sample comprised 52 individuals. Seven focus groups with patients of clinical genetics services, their representatives from patient support organizations and genetics healthcare providers were conducted. Focus groups were supplemented by 19 face‐to‐face interviews with patients and patient group representatives. Focus groups and interviews were audio taped, transcribed in full, and analyzed using the constant comparative method. Eight emotional effects of genetic diseases were identified: anxiety, worry about risks to children, guilt, anger, uncertainty, sadness and grief, depression, and redemptive adjustment. Two factors were identified that could modify the emotional effects; these were variability of genetic diseases, and lack of diagnosis/inappropriate care. Despite many negative effects of genetic disease being identified, results also suggest that redemptive adjustment is possible where a genetic condition is present in a family. Interventions designed to (1) adjust the modifying conditions and (2) help manage the emotional effects may facilitate adjustment and improve patient outcomes.

Improving Service Evaluation in Clinical Genetics: Identifying Effects of Genetic Diseases on Individuals and Families.

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.

Patients' perceptions of what makes genetic counselling effective: an interpretative phenomenological analysis.

Little is known about what makes for effective genetic counselling. Helping counselees adjust to their genetic situation is highlighted as a goal in most definitions of genetic counselling, but the processes involved in this are less clear. The current investigation focused on counselees’ perceptions of their genetic consultation as a possible influence on adjustment. Participants were all attending a Regional Genetics Clinic in the UK for the first time and were being seen for a variety of reasons. Transcripts of the interviews were analysed using interpretative phenomenological analysis. Being seen by an ‘expert’ was seen as a positive aspect of attending the genetics clinic and one that was associated with receiving full information. The perception that either they, or the doctor, were able actively to do something about their situation, helped to relieve feelings of vulnerability. The implications of these findings are discussed in relation to the way genetic counselling is conducted.

What process attributes of clinical genetics services could maximise patient benefits

There is limited evidence about what process attributes of clinical genetics services may be highly valued by patients and service providers. The aim in this qualitative grounded theory study was to explore what process attributes may be highly valued by those stakeholders. Seven focus groups (n=33) and nineteen one-to-one interviews were conducted (total sample size=52). Five process attributes were identified as highly valued by patients and health professionals: (1) local and accessible services (2) open access and follow-up, (3) coordinated, tailored family care, (4) quality of the patient–clinician relationship and (5) time to talk. These findings will be useful in designing models of service delivery that could be tested in intervention studies.

Report from the UK and Eire Association of Genetic Nurses and Counsellors (AGNC) Supervision Working Group on Genetic Counselling Supervision

The Association of Genetic Nurses and Counsellors (AGNC) is the professional organisation which represents genetic counsellors and genetic nurses in the United Kingdom (UK) and Eire. The AGNC recognises that genetic counselling supervision is instrumental to the practice, training and registration of genetic counsellors in the UK. The AGNC formed a Supervision Working Group, whose terms of reference were to collate information on supervision and create a list of ‘best practice’ recommendations for its genetic counsellor members. This report delivers the findings from the Supervision Working Group and has been peer reviewed by the AGNC membership in the UK and Eire and ratified by the AGNC Committee. It offers a working definition of genetic counselling supervision, gives an overview of some of the literature on supervision and concludes with practice recommendations.

Developing and evaluating a culturally appropriate genetic service for consanguineous South Asian families

Blackburn with Darwen Primary Care Trust (PCT) provides services to a substantial Asian population in which the practice of consanguineous marriage is common and there is a high incidence of autosomal recessive disorders. The aim was to provide and evaluate a genetic service accessible to consanguineous families from the South Asian community who had a child affected by an autosomal recessive disorder. Information on genetic risk was provided along with the offer of genetic testing for members of the extended family to identify gene carriers and facilitate informed reproductive choices. An Urdu-speaking health visitor was employed to establish a community-based, hospital-linked genetic service in conjunction with local paediatric and regional genetic services offered to parents who had an affected child and 71 of their relatives. The service was evaluated using a specifically designed questionnaire. There was a high uptake of the service (95% of index parents and 92% of relatives to whom it was offered) and a high uptake of carrier testing (94% of relatives to whom it was offered). Eight requests for prenatal diagnosis were made during the course of the service development. Many individuals stated they would consider genetic risk when making future marriage and reproductive plans. Input from a health care worker from the same ethnic background who provided information in their own language was highly valued. Family orientated genetic services for ethnic groups practicing consanguinity can be acceptable and effective when provided in a culturally appropriate manner.

Experiences of predictive testing in young people at risk of Huntington’s disease, familial cardiomyopathy or hereditary breast and ovarian cancer

While debate has focused on whether testing of minors for late onset genetic disorders should be carried out if there is no medical benefit, less is known about the impact on young people (<25 years) who have had predictive testing often many years before the likely onset of symptoms. We looked at the experiences of young people who had had predictive testing for a range of conditions with variable ages at onset and options for screening and treatment. A consecutive series of 61 young people who had a predictive test aged 15–25 years at the Clinical Genetic Service, Manchester, for HD, HBOC (BrCa 1 or 2) or FCM (Hypertrophic Cardiomyopathy or Dilated Cardiomyopathy), were invited to participate. Thirty-six (36/61; 59%) agreed to participate (10 HD, 16 HBOC and 10 FCM) and telephone interviews were audiotaped, transcribed and analysed using Interpretative Phenomenological Analysis. None of the participants expressed regret at having the test at a young age. Participants saw the value of pretest counselling not in facilitating a decision, but rather as a source of information and support. Differences emerged among the three groups in parent/family involvement in the decision to be tested. Parents in FCM families were a strong influence in favour of testing, in HBOC the decision was autonomous but usually congruent with the views of parents, whereas in HD the decision was autonomous and sometimes went against the opinions of parents/grandparents. Participants from all three groups proposed more tailoring of predictive test counselling to the needs of young people.