Telegenetics: A Systematic Review of Telemedicine in Genetics Services

By Rachel Iredale et al.

The new knowledge generated by the Human Genome Project will allow us to apply genetics advances to healthcare more than ever before. ‘Telegenetics’ is the term used to describe the application of telemedicine to clinical genetics services.

The term telemedicine often refers to a realtime interaction between a patient and a health professional via videoconferencing, which would conventionally be conducted faceto- face. By enabling remote contact with health By Rachel Iredale et al. service providers, telemedicine can benefit rural populations by reducing geographical barriers to accessing specialist health services. Telemedicine may be particularly effective in medical specialities where verbal interactions are a key part of the assessment process, such as in psychiatry and neurology. Research in these areas demonstrates that care via telemedicine produces comparable outcomes to face-to-face consultations.

Genetics services are often counselling based and, thus, may also represent a specialised field of healthcare where telemedicine may effectively be utilised as an alternative to standard face-to-face interactions between health professionals and patients. The standard procedure in genetic services often involves several visits to a genetics clinic to undergo genetic counselling, physical evaluation, receive genetic test results, and for any follow-up appointments. In Europe and the USA, access to genetic services often requires travel to an urban centre which means that remote populations may not benefit from the information, treatment and psychosocial support that genetic services can offer.

We systematically reviewed the literature to identify studies of genetic consultations via video-conferencing to determine whether we could draw conclusions about its value. 14 articles reporting data from 12 separate studies published between 2000 and 2011 met all of the study selection criteria. Studies were conducted in the USA, Canada, the UK and Australia. All of the studies utilised real-time videoconferencing via multiple high-speed ISDN lines (between 128 and 384 kbps) to provide clinical genetic services to remote or outreach areas. In a majority of studies, patients received their telegenetics consultation at a local clinic or outreach centre and often had a health professional such as a genetic counsellor or paediatrician present with them at the outreach clinic, whilst they communicated via synchronous video link with a geneticist or a genetic counsellor.

According to this review patients are generally highly satisfied with the use of telemedicine in genetic service delivery, including genetic counselling and paediatric genetic diagnosis. Included studies also show that patients have comparable affective outcomes when genetic consultations are delivered via telemedicine or face-to-face, suggesting telemedicine is an effective means of providing genetic consultations/counselling to rural populations. Surveys of genetics practitioners were not always as positive and many expressed concerns about difficulty establishing rapport with patients via telemedicine and difficulties with using the technology. Many included studies concluded that with appropriate training and experience with telemedicine, practitioners will become more accepting of the technology.

Although most patients appreciated having reduced waiting times and/or travelling shorter distances, there is a need to be cautious when interpreting data from patient surveys for telegenetics consultations. Telegenetics patients have received a service they ordinarily would not have and may give ‘obliged endorsements’. However, many studies have stated that telegenetics is not intended to replace existing services but may be a useful adjunct to traditional service delivery for dysmorphologic evaluation and/or genetics consultations. Telemedicine may therefore extend access to remote populations, reduce waiting times to see genetic specialists, and thereby increase the capacity to provide genetic services to those who require them, and not just those fortunate to live close to genetics centres .

The cost-utility of providing telegenetic services including costs of equipment, transmission lines, training and personnel has not been formally evaluated, and is therefore a vital area for further research. High quality evidence on the efficacy and cost-effectiveness of telegenetics will encourage the expansion of these services within the National Health Service (NHS) in the UK. In the United States, reimbursement of telegenetics needs to be sufficient in order to provide sustainable telegenetic clinics. This involves ensuring that approaches have the support of health insurers, from private insurance companies to Medicare and Medicaid, the federal health insurers for the elderly and poor. To date, Medicaid does not universally reimburse for telemedicine in all 50 states, nor do private payers. Under Medicaid programs there are also wide variations in service coverage, payment policies and other stipulations, which are considered to be barriers to the long-term sustainability and expansion of telemedicine services.

In conclusion, telemedicine technology is being utilised by most medical specialities (e.g. teledermatology, telepsychiatry and teleradiology) and may also be of use in the delivery of genetic services. Further prospective, fully powered, and well-designed studies of telegenetic services which look at the accuracy of diagnoses, diagnostic impact and patient outcomes are needed to make informed decisions about the appropriate use of telemedicine in genetics service delivery.

Rachel Iredale                                                                                                             Jennifer S. Hilgart                                                                                                               Julie A. Hayward                                                                                                   Bernadette Coles                                                                                                   University of Glamorgan                                                                                             Wales                                                                                                       riredale@glam.ac.uk