Table 2.

Study characteristics and results.

Author and location	Reason for and type of genetic counselling	Videoconferencing set- up	Study design and methods	Comparison group	Outcome measures	Key findings
Coelho et al, 2005 (England)29	Oncology Counselling provided to individuals with a family history of breast, ovarian or colon cancer. Counselling provided by a genetics consultant	Satellite clinic with videoconferencing equipment. Not clear if local staff helped with video consultations	Prospective cohort study. Questionnaires were given pre and post counselling. In the final analysis telemedicine n = 16 and in person n = 21	Patients receiving in- person counselling (assigned to groups by geographical location)	Pre and post counselling: -Cancer genetic knowledge -Cancer related anxiety Post counselling: -Satisfaction with consultation	There was a trend towards difference in satisfaction between groups (p = 0.08). Both groups had a trend towards increase in cancer knowledge. In the scoring of knowledge before and after counselling the knowledge in the telemedicine group increased from 4.12 to 4.56 and for in person the increase was 4.95 to 5.29. Overall anxiety decreased in both groups. Pre counselling anxiety levels were 17.17 (SD = 4.12), 15.70 (SD = 4.28), and 16.25 (SD = 4.21) for the telemedicine and face-to-face groups respectively. The post-counselling anxiety scores were reduced to 11.08 (SD = 3.08) and 12.45 (SD = 2.66) respectively.
Abrams & Geier, 2006 (USA)21	Prenatal Counselling was provided to any referred to the service with no exclusion criteria. Counselling provided by a trained genetics counsellor.	Satellite clinic with videoconferencing equipment.	Matched cohort study. Questionnaires were mailed post counselling. In the final analysis telemedicine n = 7 and in person n = 14	Patients receiving in- person counselling (assigned to groups via geographical location)	Post counselling: -Patient satisfaction	Both groups were satisfied with their genetic counselling.100% of the videoconferencing group and the majority of on-site counselling responses were positive. The telegentics and the in person group felt that the sessions were confidential. The telegenetics group felt that telehealth was an advantage due to reduced travel time. However, 1/7 indicated they would have preferred to see GC on-site.
Zillacus et al, 2011 (Australia)24	Oncology Counselling for women with a moderate/ high risk of hereditary breast or ovarian cancer seeking genetic counselling for the first time. Counselling provided by a clinical geneticist and genetics counsellor.	Satellite clinic with videoconferencing equipment. In remote sites the genetics counsellor was in the room with the patient and the clinical geneticist was remote.	Prospective cohort study Questionnaires completed before and 1 month after the counselling. In the final analysis telegenetics n = 106 and in person n = 89.	Patients receiving in- person counselling (assigned to groups via geographical location)	Pre and post counselling: -Cancer specific anxiety -Cancer genetic knowledge -General anxiety and depression -Counselling expectations Post counselling: -telegenetics satisfaction -provider empathy	There was no significant difference in satisfaction post counselling between groups (p = 0.76) There was a significant increase in cancer knowledge in both groups, with no significant difference in knowledge gained between groups (p = 0.55). There were no significant differences between change in cancer specific anxiety. In the hospital anxiety and depression scale there was no significant difference in change in generalized anxiety (P = 0.42), or depression (P = 0.96) between groups. Telegentics performed better in promoting perceived personal control When asked about future appointments : 7% indicated that they would prefer a face-to-face appointment, 33% preferred telegenetics again, and 59% did not have a preference
Wenger et al, 2014 (USA)31	Paediatric Assessment of dysmorphology in a neonatal intensive care unit, for children who were referred to the genetics services. Examinations were done by a bedside clinician or a genetics consultant	A bedside consultation by a clinician was streamed via videolink to a remote genetics consultant.	Prospective cohort study. Comparing ability to detect dysmorphic features in telemedicine and in person examinations. In the final analysis n = 10	In person review of the same children	Post examination -number of dysmorphic features identified	Telemedicine examinations initially identified 93% of dysmorphic features. When the examination conditions were optimised further abnormalities were identified, increasing to 83/87 or 95%. Features not identified included: cleft palate, clinodactaly and scars.
Buchanon et al, 2015 (USA)26	Oncology Counselling for individuals referred to cancer genetics services between August 2008 and January 2011, who had not previously received genetic counselling. All sessions were provided by the same genetic counsellor.	Satellite clinic with videoconferencing equipment. Clinic personnel logged patients onto the software system, but did not stay with them.	Randomized trial. One week post counselling individuals were called to complete a satisfaction and knowledge questionnaire. These were delivered via telephone with a standard script. In the final analysis n = 59 for telegenetics and n = 71 for in person.	Patients receiving in- person counselling (Randomization was done by a statistician using a computer programme).	Post counselling: -Patient satisfaction -Patient attendance -Cancer genetic knowledge -Cost-effectiveness	Satisfaction with genetic counselling was high in both groups with no significant differences between groups. When examining variables affecting satisfaction education level was associated with satisfaction for the in person group. Nearly all in the telegenetics group reported that they could see and hear the telegenetics counsellor clearly. However, 15% of consultations (n = 11) were hampered by technical problems, including 7% in which a counseling session could not be completed and had to be rescheduled. Participants assigned to the in person group were significantly more likely to attend their appointment (89% vs. 79%, p = 0.03). Race, income and computer comfort were associated with attendance. Non-attenders for all appointment types were significantly more likely to have less than college education, be non-white, not married or living with a partner, unemployed, and have less than $50,000 household income Total costs to provide counselling were $106.19 per telegenetics patient and $244.33 per in-person patient.
Bradbury et al, 2016 (USA)32	Oncology Pre and post test counselling for cancer genetic risk in individuals referred from three community sites without a genetic provider. Sessions were delivered by four genetic counsellors using a specific checklist	Satellite clinic with videoconferencing equipment. Community clinic staff were available to assist patients with any technology issues and facilitate genetic t17.1 points esting.	Prospective cohort study. Questionnaires were given to individuals at baseline and after visits 1 and 2. In the final analysis n = 41 for completing all 3 surveys.	No comparison group	Pre and post counselling: -Cancer genetic knowledge -psychosocial state Post counselling: -Telemedicine satisfaction	There was high overall satisfaction with the telemedicine service. After the second visit 95% of patients reported feeling comfortable with the video camera and 98% felt their privacy was respected. 52% of patients experienced some technical difficulties, but only 3.9% had to be stopped due to these issues There was an increase in knowledge post counselling (p = 0.08). For psychosocial outcomes there was a significant decrease in general anxiety and general depression after completing both visits (p = 0.003 and p = 0.01 respectively). Whilst cancer worry decreased from 17.1 points to 16.8 the decrease was not statistically significant (p = 0.27).
Otten et al, 2016 (Netherlan ds)22	Cardiology, Oncology and Prenatal. Counselling for cardiogenetic and oncogenetic cascade screening for a known familial variant. Pretest counselling for urgent prenatal screening Individuals had been referred to genetic counselling between August 2011 and April 2012 Unclear whether all counselling provided by genetic counsellors or other health professionals as well.	Online sessions were provided to patients in their homes using the ‘mycoachconnect’ company tools.	Prospective matched cohort study. Questionnaires were sent online pre and post counselling. In the final analysis telegenetics n = 57 and in person n = 71.	Patients receiving in person counselling. Patients were allocated to groups by time of appointment (online group recruited first and then matched)	Pre and post counselling: -General anxiety - Expectations of counselling Post counselling: -Patient satisfaction -Perceived personal control -Telemedicine satisfaction	Online patients had a greater reported satisfaction post counselling. Satisfaction with counselling content did not differ between groups. Mean satisfaction item scores were 2.96 (SD 0.12) for online patients and 2.91 (SD 0.30) for controls. The mean change in perceived personal control score and anxiety scores did not differ significantly between groups. Of those approached for online counselling 64% were excluded due to lack of equipment. Technical problems occurred in nearly half of the online sessions.
Otten et al, 2016 (Netherlands)23	Cardiology, Oncology and Prenatal. Counselling for cardiogenetic and oncogenetic cascade screening for a known familial variant. Pretest counselling for urgent prenatal screening Individuals had been referred to genetic counselling between August 2011 and April 2012 Counselling provided by 10 genetic counsellors	Online sessions were provided to patients in their homes using the ‘mycoachconnect’ company tools. Counsellors were also encouraged to undertake at least one counselling session from their homes.	Prospective cohort study. Questionnaires were given at the start of the trial, after each counselling session and at the end of the study period. In the final analysis n = 10 and they represented an average of age, sex, profession and attitude towards online counselling.	In person counseling was used as a comparison for the cost analysis	Pre and Post counselling: -counsellor satisfaction -evaluation of practical issues counsellor perspective of patient responsibilities -cost impact	Counsellor satisfaction decreased over the study period (3.38 to 2.95), with an effect size of 0.5. The type of counselling did not significantly impact the uptake of DNA testing (95% online vs 93% in person, p = 0.73). The estimated time savings from online counselling was 7.6% for the cardiogenetic and oncogenetic group and 8.8% for prenatal. THe estimated cost savings were 10.2% for cardiogenetic/oncogenetic and 12.4% for prenatal. This translates to $37 saving per session for cardiogenetic/oncogenetic. One counsellor left the study due to negative experiences
Mette et al, 2016 (USA)33	Oncology Cancer genetic counselling for individuals referred to the genetics service by a healthcare provider/ local clinic or who self referred. The counselling was provided by certified genetic counsellors or by an oncologist experienced in cancer genetic risk assessments.	Satellite clinic with videoconferencing equipment.	Cross-sectional cohort study. Questionnaires were sent to individuals by post after genetic counselling. Individuals were contacted by telephone to ask if they had made any behavioural changes after their genetic risk assessment. In the final analysis telemedicine n = 56 and in person n = 63	In person counselling (unclear how individuals were assigned to groups but likely via time of appointment booking)	Post counselling: -Patient satisfaction -Behavioural modifications as a result of genetic counselling	There was no significant difference in consultation satisfaction between the in person and telegenetics groups. Overall satisfaction was high in both groups. On the Likert scale used for satisfaction (/5) the greatest difference between average point scores for a question was 0.13 in favour of telemedicine. Of those answering questions about behavioural changes 34% stated that they had made a change in lifestyle, 38% said they had increased screening frequency. However, these results were not divided by service delivery method.
Bradbury et al, 2018 (USA) Abstract18	Oncology Cancer genetic counselling and relevant test disclosure. Individuals had met national criteria for cancer genetic testing for breast, ovarian or colorectal cancers and had insurance covering for genetic testing Sessions delivered by genetics counsellors.	Satellite clinic with videoconferencing equipment. Another arm of the study had telephone communication	Randomized study comparing telemedicine, telephone calls and usual care. In the final analysis telephone arm n = 35, telemedicine n = 31 and usual care n = 40	Telephone group and usual care group (given written information on how to find genetic services in their area). It is unclear how individuals were randomized.	Pre and post counselling: -Uptake of genetic counselling and testing at 6 months -Cancer knowledge -General anxiety and depression -Cancer specific distress	Greater knowledge gains in the videoconferencing group compared to the telephone group. In the phone group point score knowledge gain averaged +7.4, SD 10.5 vs 17.8, SD 16.5 for the video group (p < 0.01). Greater reductions in depression scores in the videoconferencing group compared to the telephone group In all groups tested those with the highest income levels (p < 0.05), older age (p = 0.07) and being married (p = 0.06) were associated with uptake of testing.
Solomons et al, 2018 (USA)27	Oncology Counselling and relevant results disclosure for individuals with personal or family histories suggestive of hereditary cancer susceptibility. Counselling delivered by cancer genetic counsellor and a medical oncologist	Satellite clinic with videoconferencing equipment.	Prospective cohort study. Questionnaires before and after counselling, and 1 month post counselling via mail. In the final analysis telemedicine n = 41 and in person n = 24	Patients receiving in- person counselling (assigned to groups via geographical location)	Pre and post counselling: -Knowledge of hereditary breast and ovarian cancer in relevant patient groups -Emotional health Post counselling: -Patient satisfaction	In both groups relevant for hereditary breast and ovarian cancer knowledge assessment there was an increase in knowledge post counselling. In telemedicine the point increase before to post counselling was 3.7 to 6.6 and in person was 4.1 to 6.9. This knowledge gain was sustained in both groups at 1 month (5.9 for telemedicine, 6.9 for in person). Both groups had decreases in anxiety and depression after counselling. There were not statistically significant differences between groups (anxiety p = 0.59 and depression p = 0.2). 13% in the remote group said the telemedicine did not meet their healthcare needs
Voils et al, 2018 (USA)20	Oncology Counselling due to a personal history of polyposis. Counselling was performed by genetic counsellors.	Satellite clinic with videoconferencing equipment. Individuals in the phone arm of the trial remained at home.	Randomized controlled trial.. There was baseline testing of knowledge and a questionnaire 2 weeks after counselling. Semi Structured qualitative interviews were conducted one month after counselling. In the final analysis n = 9 for telemedicine and n = 18 for telephone.	Telephone group Randomization was done with block size of 8	Pre and Post Counselling: -Knowledge of polyposis and colon cancer Post Counselling: -Patient satisfaction -Cost	Both groups were satisfied with the counselling. Telephone: mean satisfaction score 25.2/30, Video: mean satisfaction score 26.9/30. In qualitative review of satisfaction the telephone group enjoyed the ease of the consultation whilst the video group enjoyed being able to see counsellors’ body language. Counsellors preferred using videoconferencing to telephone calls. There was no significant difference between knowledge gain in the two groups, though the video group had a trend towards greater knowledge gain. Videoconferencing participants required a median of 2.8 h to travel to and from the outpatient clinic. The estimated median loss of productivity cost incurred by videoconferencing patients was $67.29
Bradbury et al, 2019 (USA) Abstract19	Alzheimers Disclosure of APOE genotype to patients enrolled in the Alzheimer’s initiative Generation Study 1 Results disclosure delivered by genetics counsellors	Method of videoconference was not stated in the abstract.	Planned interim analysis of a randomized control trial. Knowledge and psychosocial outcomes were measured at baseline, 2-7 days after result disclosure and then 6 weeks after counselling. In the analysis telemedicine n = 201 and telephone n = 209	Telephone group	Pre and post Counselling: -Knowledge of genetic risk -Psychosocial state	Those in the telephone arm reported less disease-specific distress but it was not statistically significant Satisfaction with services was slightly higher in the telephone disclosure arm post-disclosure (0.8 higher in telephone arm, p = 0.07 at 6 weeks) There was no statistically significant difference in knowledge increase between the groups (p = 0.61 at 1-2 weeks and p = 0.27 at 6 weeks). The knowledge increases in both groups were sustained at 6 weeks post disclosure.