Table 1. Table of included papers.
Authors and title (country of study) | Objective | Design and method | Participants | Data analysis | Main results | Quality assessment score and quality issues |
---|---|---|---|---|---|---|
Hannig VL et al16 (United States) | Objective not clear, but appeared to be to assess activity of newly established GC clinic and ascertain patient satisfaction. | Descriptive case series and cross-sectional survey. | Descriptive data are reported on 321 patients who attended a GC clinic in one institution. Of these, 30/135 (22% RR) completed the survey. | Descriptive statistics. | Genetic counsellors saw 321 patients over 2 years, of these 80% did not require additional consultation with a doctor. This allowed doctors to see complex cases or patients requiring clinical examination. Majority of patients satisfied or very satisfied with service according to range of measures such as waiting time, respect for opinions and feelings, knowledge of GC and presentation of info. 97% would recommend the clinic. | 61%, survey small, only 22% response rate. Satisfaction surveys generally not good indicators. |
Hines KA et al15 (mainly United States) | ‘To investigate how genetic counsellors participate in reproductive decision making with individuals at risk of HD and how they manage the tension between non-directiveness and other ethical issues regarding reproductive decisions' (pp 133–134). | Qualitative descriptive study. | Members of the National Society of Genetic Counsellors who had counselled patients at risk of HD. Potential participants completed an online questionnaire (n=93) and of 31 who volunteered for a phone interview, 15 were interviewed. | Inductive and cross-case method of qualitative analysis. | Counsellor responsibilities are: information provision, involvement in reproductive decision making, psychosocial support and addressing ethical issues. Counsellors also felt their responsibilities were dissimilar to those of genetic counsellors who dealt with patients with other genetic conditions or issues. | 85% |
Hodgson J et al14 (Australia) | ‘To explore the current practice in prenatal genetic counseling sessions in Victoria, Australia' (p 23). | Counselling sessions with the GC were taped and the transcripts analysed. | 52 women at increased risk of fetal anomaly after screening were invited, 21 took part. | Conversation and discourse analysis. | Content of the sessions included the following: screening test, diagnostic testing, explanation of test procedure, explanation of risk of miscarriage, explanation of possible results and talking about decisions to be made. The interactions between client and counsellor were designated as: risk communication, decision making dialogue and discourse on abortion. | 80% |
James C et al19 (Australasia) | ‘To obtain a clearer picture of the day-to-day situation for counsellors, documenting their roles and resources' (p 440). | Cross-sectional survey. Questionnaire included sections on demographics, level of responsibility, education and promotion, resources and technology and professional development. | The cohort consisted of non-medical genetic health professionals working in genetic counselling units in Australia and New Zealand. 76/107 were returned (response rate 71%). | Percentages and frequencies. | In main units, 50% of clients were seen by a genetic counsellor alone, this rises to 70% in outreach and rural clinics. Agreement in roles generally regarded as those of GC, such as pedigree drawing, explanation of inheritance pattern, risk assessment and psychological impact of diagnosis. Some discrepancies regarding some key activities such as clinical examination or ordering tests. | 66% |
Kromberg et al18 (Australia) | ‘To document the nature and scope of genetic counselling services' (p 33) over a 2-year period. | Descriptive case series through retrospective analysis of secondary data. | Database records of the Queensland Clinical Genetic Service were interrogated. These included information on counselling activity of 10 professionals who were genetic counsellors or associate genetic counsellors. | Not indicated, but only descriptive statistics reported. | During the study period, genetic counsellors saw patients with a total of 79 different disorders, They were counsellors or co-counsellors for 80% of patients seen by the service; 42% of sessions were conducted by the genetic counsellor alone. Most common issues were advanced maternal age (23%) and hereditary cancer (5%). Counsellors also involved in public and health professional education, research, audit, management of clinics, retrieval of medical information and searches for evidence. | 69%, no description of the data analysis method. |
Kromberg et al17 (South Africa) | ‘To investigate the roles genetic counsellors have in the provision of genetic services in South Africa' (page not available, online version). | Cross-sectional survey plus longitudinal retrospective study-based register data and clinical records. | All genetic counsellors registered with the HPCSA (n=23). Sixteen completed questionnaires. Other data were obtained from counsellor log books (n=13) and clinical records. | Descriptive statistics and frequencies. Thematic coding of open-ended questionnaire data. | All participants undertook counselling, but some combined this with research or teaching. Genetic counsellors saw 39% (medical geneticists 61%) of referred cases in the study period. Counsellors provided care for patients with 57 different diagnoses, most common AMA and for DS. Counsellors felt theirrole would expand with pre- and post-test counselling required for greater number of tests for genetic disorders (particularly PST). | 78% |
Powell K et al.20 (mainly United States) | ‘To identify the work settings and public health activities in which genetic counsellors participate' (p 594). | Cross-sectional survey using a novel questionnaire. | All members of the Public Health Special Interest Group of the National Society of Genetic Counsellors. Forty-six members were eligible; 32 surveys were completed (RR 70%). | Descriptive statistics and measures of variability. | 53% had non-clinical position. Five counselled adults patients, four paediatric patients and two prenatal. Conditions included cancer, developmental delay, chromosome disorders, advanced maternal age and prenatal screening results. Educate HPEducate public, chronic disease programmes (mostly counselling or education about cancer), newborn screening programmes and lobbying. ResearchWriting and administering grantsPublic genetics needs assessments. | 89%, small sample but 70% of the available cohort. |
Abbreviations: AMA, advanced maternal age; DS, Down Syndrome; GC, genetic counselling; HD, Huntington Disease; HPCSA, Health Professionals Council of South Africa; PST, presymptomatic testing; RR, response rate.