telegenetics: a systematic review of telemedicine in genetics services

765Genetics in medicine | Volume 14 | Number 9 | September 2012

©American College of Medical Genetics and Genomics SyStematic review

1Institute of Medical Genetics, Cardiff University, Cardiff, UK; 2Cancer Research Wales Library, Cardiff University, Cardiff, UK; 3Faculty of Health, Sport and Science, University of Glamorgan, Pontypridd, UK. Correspondence: Rachel Iredale ([email protected])

Submitted 13 December 2011; accepted 27 February 2012; advance online publication 12 April 2012. doi:10.1038/gim.2012.40

Purpose: Telemedicine is being increasingly used in many areas of health care, particularly to reduce the barriers that rural popula-tions face in accessing health-care services. Telemedicine may also be effectively utilized in clinical genetics services—an application that has been termed “telegenetics.” methods: A systematic review of the literature was conducted to identify studies of genetic consultations carried out through video-conferencing so as to determine whether conclusions can be drawn about the value of telegenetics. A total of 14 articles reporting data from 12 separate studies met the inclusion criteria. Results: In a majority of these studies, patients received their tele-genetics consultation at a local clinic or outreach center, from where they communicated via a synchronous video link with a genetics practitioner. All the studies reported high levels of patient satisfaction

with telegenetics, and patients were generally more receptive to tele-genetics than the genetics practitioners were. The studies had limita-tions of small sample sizes and lack of statistical analyses.

conclusions: This review suggests that telegenetics may be a useful tool for providing routine counseling and has the potential to evalu-ate pediatric patients with suspected genetic conditions. Prospective, fully powered studies of telegenetics that explore the accuracy of diagnoses and patient outcomes are needed to allow informed deci-sions to be made about the appropriate use of telemedicine in genet-ics service delivery.

Genet Med 2012:14(9):765–776

Key Words: clinical genetics; genetic counseling; systematic review; telegenetics; telemedicine

telegenetics: a systematic review of telemedicine in genetics services

Jennifer S. Hilgart, BSc, MSc1, Julie A. Hayward, BSc1, Bernadette Coles, MSc2 and Rachel Iredale, MA, Phd3

Telemedicine is the use of electronic and communication tech-nologies for medical diagnostic, monitoring, and therapeutic purposes when distance and/or time separate the participants.1 The term telemedicine often refers to a real-time interaction between a patient and a health professional through video-conferencing rather than face to face. By enabling contact with health service providers in distant locations, telemedicine can benefit rural populations by reducing geographical barriers to accessing specialist health services.2–5 Other benefits of telemed-icine include improved efficiency and reduced costs of health services. The large number of articles and reviews published in recent years about telemedicine demonstrates the increasing use of, and research into, telemedicine services.

In a review of reviews, Ekeland et al.6 identified 80 systematic reviews published between 2005 and 2009 on the impact and cost of telemedicine in various areas of health care, including psychiatry, dermatology, and diabetes. Ekeland et al. concluded that the results of these reviews were diverse; some suggested that telemedicine has positive therapeutic effects and increases effi-ciency within health services,7,8 while other reviews concluded that the evidence for the benefits of telemedicine was inconsis-tent and limited.9,10 The data relating to the cost- effectiveness of telemedicine are also mixed; a recent review found that syn-chronous video communication was cost effective for home

care and access to on-call hospital specialists but not for the local delivery of services between hospitals and primary care.11 Despite the lack of consensus within the literature regarding the effectiveness of telemedicine in improving the quality of, or access to health care, its use remains widespread.12

Telemedicine may be particularly effective in medical special-ties in which 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 outcomes comparable to those of face-to- face consultations.13–17 Genetics services are often based on counseling and may therefore also be a specialized field of health care in which telemedicine can be effectively utilized as an alternative to standard face-to-face interactions between health professionals and patients.

Referrals to genetics services are generally suggested if a patient is suspected of being at risk of, or affected by, a genetic disorder. For example, genetics specialists can diagnose a patient with symptoms of a disease or carry out a disease risk assessment or a reproductive risk assessment relating to a pos-sible carrier status or pregnancy. This often involves several visits to a genetics clinic to undergo genetic counseling and physical evaluation, receive genetic test results, and attend fol-low-up appointments. In Europe and the United States, access to genetics services is often available only in urban centers,18,19

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mailto:[email protected]

766 Volume 14 | Number 9 | September 2012 | Genetics in medicine

HILGART et al | Review of telegeneticsSyStematic review

which means that remote populations may not have access to the information, treatment, and psychosocial support that genetics services can offer. The potential for using telemedicine in clini-cal genetics service delivery has been highlighted by a number of authors,19–21 who have suggested that it may enable more equi-table access to genetics services for people who must otherwise travel long distances to specialist centers. Indeed, an increasing number of studies are exploring alternative models of service provision, including genetic counseling over the telephone,22,23 and genetics consultations via real-time videoconferencing,24 so as to improve equality of access, improve cost efficiency, and help to meet the increasing demand for these services.

Our systematic review aims to synthesize the evidence available to date about genetic consultations carried out via videoconferencing, a process that has been termed “telegenetics”.24,25 Our aim was to determine whether conclu-sions can be drawn about the value of telegenetics, and to provide recommendations for further research and its adop-tion in clinical practice.

metHOdssearch strategyThe literature search focused on English-language articles per-taining to the use of telemedicine in clinical genetics services (see Table 1 for search key words). The following electronic databases were searched: MEDLINE, EMBASE, PsychINFO, CINAHL, British Nursing Index, Cochrane Library, and the Web of Science. Each database search was conducted dur-ing the week of 28 November 2011 to identify articles pub-lished from January 1996 up to November 2011. The Science Citation Index was searched to find articles that cited the stud-ies included in the database search results. The reference lists of all relevant articles and other reviews were used to identify additional studies.

eligibility criteriaStudies were included in this review if they were published in a peer-reviewed journal in English and were aimed at evaluating the effectiveness, cost, or feasibility of synchro-nous telemedicine consultations in any area of clinical genet-ics. Studies that did not include genetics consultations were excluded. Randomized controlled trials and nonrandomized pilot studies were considered for inclusion. Both quantitative and qualitative studies were eligible, but reviews, letters with no primary data, case studies, and unpublished studies were excluded.

The outcomes of interest were clinical efficacy, knowledge, perceived risk, affective outcomes (e.g., distress, anxiety, and depression), behavioral outcomes (e.g., surveillance/surgery uptake and genetic testing uptake), satisfaction, and cost of the service. All titles and abstracts were screened in accordance with the inclusion criteria. Full-text articles were obtained whenever more information was required to make a decision about inclusion. Two reviewers independently reviewed the full-text studies to determine whether they met the inclusion

criteria. Any disagreement about a particular study was resolved through discussion and/or referred to a third person.

information extractionTwo review authors independently extracted data from each of the studies included in the review. The data extracted included study design, method and setting; participant characteris-tics; and relevant outcomes. Any differences in opinion were resolved through discussion. Reviewers were not blinded as to authorship, journal, or institution.

Quality assessmentA formal quality assessment was not performed because a majority of the studies were nonrandomized studies with small sample sizes, whereas all well validated quality assessment tools are intended for use in the context of randomized controlled trials.

ResULtsstudy characteristicsA total of 14 articles reporting data from 12 separate studies met all the study selection criteria. Details of the studies included, pub-lished between the years 2000 and 2011, are provided in Table 2. The studies were conducted in the United States, Canada, the UK, and Australia. All the studies utilized real-time videoconfer-encing via multiple high-speed ISDN lines (between 128 and 384 kbps) to provide clinical genetics services to remote or outreach areas. ISDN lines are considered to be effective in transmitting high-resolution images and are reasonably fast and secure. In a majority of the studies, patients received their telegenetics con-sultations at a local clinic or outreach center. Exceptions to this were Meropol et al.,26 a study in which the participants were counseled in their own homes, and Gattas et al.,27 in which both the telegenetics group and the face-to-face group had their con-sultations in the same hospital in Brisbane, Australia, so as to remove the advantages of travel time and cost.

The studies included in our review related to the use of tele-genetics in counseling for hereditary cancer,26,28–33 prenatal counseling,34 pediatric services,35,36 and services for a range of genetic disorders.24,27,37 Of the 125 patients who were evaluated and/or counseled via telemedicine in the study by Lea et al.,37 64% received pediatric and/or neurological genetics consulta-tions and the rest received consultations for cancer or repro-ductive genetics counseling. Pediatric telegenetics services often included physical examinations, whereas consultations for can-cer generally only involved a review of the patients’ family his-tory, the provision of information, and psychosocial support. The type of genetics practitioner involved in the telemedicine consultations varied between studies. In several studies, patients had a genetics counselor or nurse present with them at the out-reach clinic while they communicated via a synchronous video link with a geneticist or a genetics counselor.24,27,30–33,38 In a study by Stalker et al.,36 a genetics counselor obtained information on patients’ family and medical history via teleconferencing, and a local pediatrician conducted a physical examination. The


Review of telegenetics | HILGART et al SyStematic review

patients then returned to the clinic for a face-to-face consulta-tion with the clinical geneticist. Three of the studies explored genetics counseling via teleconference with a genetics counselor only; these comprised one study involving prenatal counseling34 and two studies involving hereditary cancer counseling.26,29 Coelho et al.,28 described a study of genetics counseling for can-cer via teleconference with a genetics consultant.

Only one of the studies in our review involved randomization of participants to receive either a telegenetics consultation or a face-to-face consultation, with both groups attending the same hospital for their appointments.27 Patients in the telegenetics group communicated via a video link with the consultant, who was located only 10 meters away. The majority of the studies used a retrospective or cross-sectional design, with evalua-tions and assessments occurring after the telegenetics consulta-tion. Three studies were prospective studies with assessments both before and after telegenetics counseling.24,28,33 Two studies involved conducting qualitative interviews, one with patients32 and the other with genetics professionals,30,31 to explore their experiences of telegenetics. The other studies involved the gath-ering of data through surveys and/or telephone interviews, and

many did not involve any statistical analyses on outcomes mea-sures because of small sample sizes. Only one study indicated that validated measurement tools with acceptable reliability had been used to assess outcomes.33 That study was also the only one to mention that power calculations were conducted to ensure that any significant between-group differences were detected. Eight of the studies did not have a comparison group, and reported data solely on those who received genetics services via a telemedicine.24,26,29–32,35–38 All the studies measured patient satisfaction with the telegenetics consultation; in some cases, the health professionals’ satisfaction was also assessed. The methods of measuring satisfaction varied between studies, with many researchers developing their own scales of satisfaction, whereas others based their scales on previous research. Three studies reported on affective outcomes such as cancer-specific distress, general anxiety, and depression.24,28,33 There were no reports on clinical or behavioral outcomes such as uptake of genetics testing or cancer screening after telegenetics counsel-ing for hereditary cancer. However, Lea et al.,37 Hopper et al.,35 and Stalker et al.36 reported on the clinical efficacy of diagnos-ing pediatric genetic disorders through the use of telegenetics.

table 1 Review search strategy

medLine (OVid) emBAse (OVid) PsychinFO (OVid) cinAHL

1. Telemedicine/ 2. Remote consultation/ 3. Videoconferencing/ 4. Internet/ 5. Telecommunications/ 6. (Telehealth$ or tele-health$

or telemed$ or tele-med$ or telecommunication$ or telemanag$ or tele-manag$ or telecare or tele-care or telesupport$ or tele-support$ or telemonitor$ or tele-monitor$ or mobile health$ or ehealth$ or e-health$ or mhealth or m-health or mobile device$).tw.

7. Computer mediated.tw. 8. ((Tele$ or remote or video$) adj2

(care$ or consult$ or clinic$ or counsel$)).tw.

9. Or/1-810. Genetics/11. Genetics medical/12. Genetic counseling/13. Exp genetic services/14. Genetic predisposition to disease/15. (Genetic$ adj3 (service$ or risk$

or counsel$ or clinic$ or test$ or screen$)).tw.

16. Or/10-1517. 9 and 1618. (Telegenetic$ or tele-genetic$).tw.19. 17 or 1820. Limit 19 to English language

1. Exp telemedicine/ 2. Exp teleconsultation/ 3. Exp videoconferencing/ 4. Internet/ 5. Exp telecommunication/ 6. (Telehealth$ or tele-health$


7. Computer mediated.tw. 8. ((Tele$ or remote or video$)

adj2 (care$ or consult$ or clinic$ or counsel$)).tw.

9. Or/1-810. Exp medical genetics/11. Genetic counseling/12. Exp genetic service/13. Exp genetic predisposition/14. (Genetic$ adj3 (service$ or

risk$ or counsel$ or clinic$ or test$ or screen$)).tw.

15. Or/10-1416. 9 and 1517. (Telegenetic$ or

tele-genetic$).tw.18. 16 or 1719. Limit 18 to (human and

English language)

1. Telemedicine/ 2. Internet/ 3. Telecommunications/ 4. (Telehealth$ or tele-health$


5. Computer mediated.tw. 6. ((Tele$ or remote or video$)

adj2 (care$ or consult$ or clinic$ or counsel$)).tw.

7. Genetics/ 8. Genetic counseling/ 9. (Genetic$ adj3 (service$ or risk$

or counsel$ or clinic$ or test$ or screen$)).tw.

10. (Telegenetic$ or tele-genetic$).tw.

11. 1 or 2 or 3 or 4 or 5 or 612. 7 or 8 or 913. 11 and 1214. 10 or 13

1. (MH “Telemedicine”) 2. (MH “Telehealth+”) 3.(MH “Telenursing”) 4. (MH “Remote Consultation”) 5. (MH “Videoconferencing”) 6. TX telehealth* or tele-health*

or telemed* or tele-med* or telecommunication* or telemanag* or tele-manag* or telecare or tele-care or telesupport* or tele-support* or telemonitor* or tele-monitor* or mobile health* or ehealth* or e-health* or mhealth or m-health or mobile device*

7. Telegenetic* or tele-genetic 8. 1 or 2 or 3 or 4 or 5 or 6 9. (MH “Genetics, Medical+”)10. (MH “Genetic Counseling”)11. (Genetic*) N£ (service* or

risk* or counsel* or clinic* or test* or screen*)

12. 9 or 10 or 1113. 8 and 1214. 13



tab

le 2

Su

mm

ary

of

stu

die

s in

clu

ded

in t

he

revi

ew

Au

tho

r an

d

loca

tio

n

Rea

son

(s)

for

gen

etic

s co

nsu

ltat

ion

an

d s

ervi

ce(s

) p

rovi

ded

stu

dy

des

ign

an

d m

eth

od

sO

utc

om

e m

easu

res

Key

fin

din

gs

co

ncl

usi

on

s

Abr

ams

and

Gei

er34

USA

Pren

atal

gen

etic

s co

unse

ling

with

gen

etic

s co

unse

lor v

ia

tele

med

icin

e V

ideo

conf

eren

cing

bet

wee

n th

e pa

tient

in a

n ob

stet

ricia

n’s

offic

e in

a s

atel

lite

clin

ic a

nd th

e ge

netic

s co

unse

lor a

t the

clin

ical

ge

netic

s cl

inic

. All

coun

selin

g se

ssio

ns in

clud

ed d

iscu

ssio

n of

te

stin

g op

tions

, acq

uisi

tion

of

fam

ily h

isto

ry, a

nd in

form

ed

cons

ent.

Qua

ntita

tive

cros

s-se

ctio

nal s

urve

y co

mpl

eted

pos

t-co

unse

ling.

Com

paris

on b

etw

een

pren

atal

ge

netic

s co

unse

ling

via

tele

med

icin

e (n

= 7

) and

face

-to-

face

cou

nsel

ing

(n =

14)

.

Post

coun

selin

g m

easu

res:

- Sat

isfa

ctio

n w

ith th

e co

unse

ling

proc

ess

- Pat

ient

’s ex

perie

nce

of

vide

ocon

fere

ncin

g.

For b

oth

grou

ps, s

atis

fact

ion

with

cou

nsel

ing

scor

es a

vera

ged

betw

een

4 an

d 5

(5 =

hig

hest

sa

tisfa

ctio

n po

ssib

le),

incl

udin

g he

lpfu

lnes

s of

gen

etic

s co

unse

ling

and

satis

fact

ion

with

am

ount

of

tim

e gi

ven.

Bot

h gr

oups

felt

sess

ion

was

con

fiden

tial;

100%

of

tele

gene

tics

grou

p ga

ve p

ositi

ve

resp

onse

s ab

out c

ouns

elin

g pr

oces

s an

d a

maj

ority

of i

n-pe

rson

co

unse

ling

resp

onse

s w

ere

posi

tive.

A

ll te

lege

netic

s pa

tient

s re

port

ed

that

it w

as a

n ad

vant

age,

mai

nly

beca

use

of re

duce

d tr

avel

tim

e. O

ne

tele

gene

tics

patie

nt w

ould

hav

e pr

efer

red

an in

-per

son

cons

ulta

tion

in th

e cl

inic

.

Patie

nt s

atis

fact

ion

with

pre

nata

l ge

netic

cou

nsel

ing

was

sim

ilar a

mon

g th

ose

rece

ivin

g th

e co

unse

ling

via

vide

ocon

fere

ncin

g an

d th

ose

rece

ivin

g it

face

-to-

face

in a

clin

ic. P

atie

nts

coun

sele

d vi

a te

lege

netic

s re

port

ed

posi

tive

expe

rienc

es w

ith u

sing

the

tech

nolo

gy, a

nd s

tate

d th

at it

redu

ced

trav

el ti

me.

Con

fiden

tialit

y w

as n

ot a

co

ncer

n fo

r tho

se re

ceiv

ing

tele

gene

tics

coun

selin

g.

Coe

lho

et a

l.28

UK

Fam

ily h

isto

ry o

f bre

ast/

ovar

ian

or c

olon

can

cer

Patie

nts

rece

ived

gen

etic

s co

unse

ling

for c

ance

r with

a

gene

tics

cons

ulta

nt. (

Con

tent

s of

cou

nsel

ing

sess

ions

are

not

de

scrib

ed.)

Pros

pect

ive

stud

y co

mpa

ring

tele

gene

tics

coun

selin

g (n

= 1

6)

and

face

-to-

face

cou

nsel

ing

(n

= 2

1) fo

r can

cer.

Qua

ntita

tive

pre-

and

po

stco

unse

ling

ques

tionn

aire

, in

clud

ing

true

/fal

se q

uest

ions

, Li

kert

sca

le q

uest

ions

, and

ope

n-en

ded

ques

tions

for f

ree-

text

re

spon

ses.

Part

icip

ants

ass

igne

d to

eith

er

tele

gene

tics

grou

p or

face

-to-

face

gro

up d

epen

ding

on

thei

r ge

ogra

phic

al lo

catio

n.

- Kno

wle

dge

of c

ance

r ge

netic

s - C

ance

r ris

k-re

late

d an

xiet

y -S

atis

fact

ion.

Incr

ease

in k

now

ledg

e of

gen

etic

s of

can

cer i

n bo

th te

lege

netic

s an

d fa

ce-t

o-fa

ce g

roup

s. S

tatis

tical

ly

sign

ifica

nt in

crea

se in

kno

wle

dge

in th

e co

mbi

ned

(tel

emed

icin

e pl

us

face

-to-

face

) gro

up (P

= 0

.02)

.Si

gnifi

cant

dec

reas

e in

anx

iety

aft

er

coun

selin

g in

tele

gene

tics

grou

p

(P =

0.0

0), f

ace-

to-f

ace

grou

p

(P =

0.0

1), a

nd c

ombi

ned

grou

p

(P =

0.0

0).

Tota

l sat

isfa

ctio

n sc

ore

sign

ifica

ntly

hi

gher

in te

lege

netic

s gr

oup

(mea

n =

23.

12) t

han

in fa

ce-t

o-fa

ce g

roup

(m

ean

= 2

2; P

= 0

.08)

. Fac

e-to

-fac

e gr

oup

did

not f

eel a

s sa

tisfie

d as

te

lege

netic

s gr

oup

in re

gard

to th

eir

emot

iona

l nee

ds h

avin

g be

en m

et

(P =

0.0

2).

No

sign

ifica

nt d

iffer

ence

in th

e qu

ality

of

gen

etic

s co

unse

ling

for c

ance

r via

te

lege

netic

s as

com

pare

d to

face

-to

-fac

e. In

bot

h gr

oups

, kno

wle

dge

of th

e ge

netic

s of

can

cer i

mpr

oved

, an

d an

xiet

y le

vels

dec

reas

ed. O

vera

ll,

the

patie

nts

wer

e sa

tisfie

d w

ith

tele

gene

tics,

whi

ch s

ugge

sts

that

it

is a

use

ful a

ltern

ativ

e to

face

-to-

face

co

unse

ling

whe

n ge

ogra

phic

al d

ista

nce

is a

n is

sue.

tab

le 2

co

nti

nu

ed o

n n

ext

pag

e.


Review of telegenetics | HILGART et al SyStematic reviewta

ble

2 C

on

tin

ued

.

Au

tho

r an

d

loca

tio

n

Rea

son

(s)

for

gen

etic

s co

nsu

ltat

ion

an

d s

ervi

ce(s

) p

rovi

ded

stu

dy

des

ign

an

d m

eth

od

sO

utc

om

e m

easu

res

Key

fin

din

gs

co

ncl

usi

on

s

d’A

ginc

ourt

-C

anni

ng e

t al.29

Can

ada

Fam

ily h

isto

ry o

f bre

ast/

ovar

ian

or c

olor

ecta

l can

cer,

or

mel

anom

a.Te

lege

netic

s co

unse

ling

betw

een

Her

edita

ry C

ance

r Pro

gram

in

Vanc

ouve

r/V

icto

ria a

nd h

ospi

tals

in

six

rura

l com

mun

ities

. C

ouns

elin

g pr

ovid

ed b

y fo

ur

gene

tics

coun

selo

rs. C

ouns

elin

g in

volv

ed re

view

of f

amily

his

tory

, di

scus

sion

of c

ance

r ris

k, ri

sk

man

agem

ent s

trat

egie

s, a

nd

psyc

hoso

cial

sup

port

.

Pilo

t stu

dy to

ass

ess

the

effe

ctiv

enes

s an

d ac

cept

abili

ty o

f ca

ncer

gen

etic

s co

unse

ling

with

a

gene

tic c

ouns

elor

pre

sent

via

te

lem

edic

ine

(n =

48)

.C

ross

-sec

tiona

l qua

ntita

tive

surv

ey c

ompl

eted

pos

tcou

nsel

ing,

in

clud

ing

Like

rt s

cale

que

stio

ns

and

open

-end

ed q

uest

ions

.

Post

-cou

nsel

ing

mea

sure

s: - G

ener

al s

atis

fact

ion,

co

mfo

rt le

vel,

com

preh

ensi

on o

f in

form

atio

n, q

ualit

y of

se

rvic

e, ti

me-

and

cos

t-sa

ving

s fo

r pat

ient

. - G

enet

ics

coun

selo

r’s

satis

fact

ion

with

te

lem

edic

ine.

Hig

h le

vels

of s

atis

fact

ion

with

th

e te

lege

netic

s co

unse

ling

(ave

rage

sco

re 4

.68

of 5

). N

o pa

rtic

ipan

t rep

orte

d th

at th

e te

lege

netic

s fo

rmat

mad

e it

diff

icul

t to

com

mun

icat

e or

und

erst

and

the

info

rmat

ion.

Cos

t sav

ings

av

erag

ed $

1,00

0 pe

r per

son.

Pa

tient

s re

port

ed h

igh

leve

ls o

f co

nven

ienc

e w

ith te

lem

edic

ine

and

pref

erre

d co

nsul

tatio

ns to

take

pl

ace

in th

eir l

ocal

com

mun

ities

. Te

chni

cal d

iffic

ultie

s en

coun

tere

d w

ere

min

or. G

enet

ics

coun

selo

rs

wer

e le

ss s

atis

fied

with

tele

med

icin

e th

an p

atie

nts

(ave

rage

sco

re 3

.97

out o

f 5) a

nd re

port

ed d

iffic

ultie

s in

es

tabl

ishi

ng ra

ppor

t.

Tele

med

icin

e is

an

effe

ctiv

e m

eans

of

prov

idin

g ge

netic

s co

unse

ling

for c

ance

r to

rura

l and

und

erse

rved

pop

ulat

ions

, fo

r who

m e

cono

mic

or p

erso

nal

situ

atio

ns w

ould

hav

e be

en a

bar

rier

to a

cces

s. T

eleg

enet

ics

serv

ices

wer

e co

nven

ient

, and

resu

lted

in ti

me-

and

co

st-s

avin

gs to

pat

ient

s. A

sup

port

pe

rson

may

be

need

ed to

ass

ist p

atie

nts

at th

e re

mot

e si

te a

nd a

ct a

s a

liais

on

betw

een

site

s.

Gat

tas

et a

l.27

Aus

tral

iaM

ost o

f the

pat

ient

s w

ere

refe

rred

for c

ouns

elin

g be

caus

e of

a fa

mily

his

tory

of c

ance

r.Pr

e-cl

inic

tele

phon

e co

ntac

t m

ade

by g

enet

ics

coun

selo

r to

gat

her f

amily

his

tory

in

form

atio

n. G

enet

ics

coun

selo

r w

as in

the

room

with

the

patie

nt

durin

g th

e te

lege

netic

s se

ssio

n w

ith th

e ge

netic

s co

nsul

tant

.

Rand

omiz

ed tr

ial c

ompa

ring

tele

gene

tics

cons

ulta

tion

(n =

16)

an

d fa

ce-t

o-fa

ce c

onsu

ltatio

n (n

= 8

). Pa

tient

s w

ere

rand

omly

al

loca

ted

to th

e tw

o gr

oups

. The

co

nsul

tatio

ns fo

r bot

h gr

oups

to

ok p

lace

in th

e sa

me

hosp

ital,

with

a g

enet

ic c

ouns

elor

and

a

gene

tics

cons

ulta

nt.

Cro

ss-s

ectio

nal q

uant

itativ

e te

leph

one

ques

tionn

aire

: fou

r Li

kert

-sca

le q

uest

ions

com

plet

ed

post

cons

ulta

tion.

Post

cons

ulta

tion

mea

sure

s: - E

ase

of c

omm

unic

atio

n,

mai

ntai

ning

eye

con

tact

, co

mfo

rt o

f roo

m, a

nd

satis

fact

ion

with

clin

ic

form

at.

Patie

nts,

cou

nsel

ors

and

cons

ulta

nts

repo

rted

hig

h sa

tisfa

ctio

n w

ith

tele

gene

tics

cons

ulta

tion.

A

maj

ority

indi

cate

d th

at th

ey w

ould

be

hap

py to

use

tele

med

icin

e in

th

e fu

ture

and

wou

ld re

com

men

d it

to o

ther

s. S

atis

fact

ion

scor

es fo

r te

lege

netic

s co

nsul

tatio

n w

ere

com

para

ble

with

thos

e fo

r fac

e-to

-fa

ce c

onsu

ltatio

n.

Tele

gene

tics

is a

n ac

cept

able

alte

rnat

ive

to fa

ce-t

o-fa

ce c

onsu

ltatio

ns a

nd

redu

ces

trav

el c

ost a

nd ti

me.

It is

no

t sui

tabl

e fo

r fam

ily c

onsu

ltatio

ns

beca

use

mul

tiple

pat

ient

s ar

e di

ffic

ult t

o se

e on

-scr

een.

Gra

y et

al.24

,38

UK

Six

patie

nts

had

fam

ily h

isto

ries

of c

ance

r. Tw

o pa

tient

s w

ere

refe

rred

for o

ther

gen

etic

co

nditi

ons

(not

spe

cifie

d by

the

auth

ors)

.Th

e pa

tient

and

the

gene

tics

nurs

e co

mm

unic

ated

with

ge

netic

ist v

ia te

lem

edic

ine

from

a

rem

ote

clin

ic.

Pros

pect

ive

pilo

t stu

dy o

f te

lege

netic

s co

nsul

tatio

n (n

= 8

; si

x ca

ncer

-rel

ated

and

two

for

othe

r gen

etic

con

ditio

ns).

Qua

ntita

tive

ques

tionn

aire

co

mpl

eted

pre

- and

po

stco

nsul

tatio

n.

Pre-

and

pos

t-co

nsul

tatio

n m

easu

res:

-Kno

wle

dge

of g

enet

ics

-Anx

iety

-Illn

ess-

rela

ted

wor

ries

- Sat

isfa

ctio

n (p

atie

nts

and

heal

th p

rofe

ssio

nals

).

Dat

a sh

owed

a tr

end

tow

ard

redu

ctio

ns in

anx

iety

and

wor

ry

and

impr

ovem

ent i

n kn

owle

dge

of g

enet

ics

afte

r tel

egen

etic

s co

nsul

tatio

n. P

atie

nts

repo

rted

hi

gher

sat

isfa

ctio

n le

vels

w

ith te

lege

netic

s th

an h

ealth

pr

ofes

sion

als

did.

Pat

ient

s an

d ge

netic

con

sulta

nts

repo

rted

that

te

lege

netic

s co

nsul

tatio

n w

as n

o di

ffer

ent f

rom

, or w

as

Tele

gene

tics

may

be

an a

ccep

tabl

e m

etho

d of

com

mun

icat

ion

betw

een

gene

tics

spec

ialis

ts a

nd p

atie

nts,

and

m

ay h

elp

mee

t the

incr

easi

ng d

eman

d fo

r gen

etic

s se

rvic

es.

tab

le 2

co

nti

nu

ed o

n n

ext

pag

e.


HILGART et al | Review of telegeneticsSyStematic reviewta

ble

2 C

on

tin

ued

.

Au

tho

r an

d

loca

tio

n

Rea

son

(s)

for

gen

etic

s co

nsu

ltat

ion

an

d s

ervi

ce(s

) p

rovi

ded

stu

dy

des

ign

an

d m

eth

od

sO

utc

om

e m

easu

res

Key

fin

din

gs

co

ncl

usi

on

s

Sess

ions

invo

lved

exa

min

atio

n of

fa

mily

his

tory

and

dis

cuss

ion

of

here

dita

ry c

ance

r.

even

pre

fera

ble

to, f

ace-

to-f

ace

inte

ract

ion.

Gen

etic

s nu

rses

felt

less

at e

ase

and

less

abl

e to

obs

erve

pa

tient

s’ n

onve

rbal

beh

avio

r.

Hop

per e

t al.35

Aus

tral

iaC

hild

ren

with

dev

elop

men

tal

dela

y.Th

e ge

netic

s co

unse

lor t

ook

phys

ical

mea

sure

men

ts a

nd s

till

imag

es o

f the

pat

ient

whi

le a

ca

mer

a tr

ansm

itted

a li

ve fe

ed

to a

gen

etic

ist.

A fa

ce-t

o-fa

ce

sess

ion

was

arr

ange

d 3

wee

ks

afte

r the

tele

med

icin

e se

ssio

n.

Eval

uatio

n of

par

ents

’ sat

isfa

ctio

n w

ith a

tele

gene

tics

cons

ulta

tion

for c

hild

ren

with

dev

elop

men

tal

dela

y (n

= 1

0).

Qua

ntita

tive

satis

fact

ion

surv

ey

for p

aren

ts o

f ped

iatr

ic p

atie

nts

com

plet

ed a

t 3 m

onth

s (n

= 4

). Id

entic

al te

leph

one

surv

ey a

t 12

mon

ths

(n =

8).

Refe

rrin

g pe

diat

ricia

n co

mpl

eted

a

surv

ey a

t 3 m

onth

s.

Post

cons

ulta

tion

mea

sure

s: - S

atis

fact

ion

at 3

mon

ths

post

-con

sulta

tion

(out

com

es n

ot s

peci

fied)

- Sat

isfa

ctio

n at

12

mon

ths

post

cons

ulta

tion

- Clin

ical

eff

icac

y of

te

lege

netic

s co

nsul

tatio

n.

Clin

ical

ly in

dica

ted

test

s w

ere

requ

este

d fo

r sev

eral

pat

ient

s.

Phys

ical

mea

sure

men

ts ta

ken

by c

ouns

elor

s an

d ge

netic

ists

w

ere

suff

icie

ntly

sim

ilar.

All

pare

nts

repo

rted

hig

h le

vels

of

satis

fact

ion

with

the

tele

gene

tics

cons

ulta

tion,

and

50%

felt

it w

as

effe

ctiv

e in

gen

etic

dia

gnos

is fo

r th

eir c

hild

. At 1

2 m

onth

s, a

ll th

e re

spon

dent

s w

ere

satis

fied

with

th

e te

lege

netic

s ex

perie

nce.

One

re

ferr

ing

pedi

atric

ian

note

d th

at

som

e dy

smor

phol

ogy

feat

ures

wer

e m

isse

d th

roug

h te

lem

edic

ine.

Ove

rall

satis

fact

ion

with

the

tech

nolo

gy

was

hig

h fr

om p

aren

ts, p

edia

tric

ians

, an

d ge

netic

ists

. The

larg

e ca

mer

a w

as

som

etim

es in

trus

ive,

but

this

can

be

over

com

e by

usi

ng n

ewer

, sm

alle

r ca

mer

as. G

enet

ics

prac

titio

ners

nee

d to

be

fam

iliar

with

the

tech

nolo

gy a

nd

know

how

to s

olve

pro

blem

s. W

ith

mor

e ex

perie

nce,

phy

sica

l ass

essm

ent o

f ch

ildre

n vi

a te

lem

edic

ine

will

impr

ove.

Lea

et a

l.37

USA

Sixt

y-fo

ur p

erce

nt o

f the

pat

ient

s w

ere

pedi

atric

pat

ient

s, 1

4%

wer

e ad

ult p

atie

nts

refe

rred

fo

r can

cer g

enet

ics

coun

selin

g,

and

7% w

ere

refe

rred

fo

r rep

rodu

ctiv

e ge

netic

s co

unse

ling.

Dur

ing

the

3-ye

ar p

roje

ct

105

patie

nts

and

~25

0 fa

mily

mem

bers

had

gen

etic

s co

nsul

tatio

n vi

a te

lem

edic

ine.

W

hen

nece

ssar

y, th

e ou

trea

ch

site

nur

se p

erfo

rmed

phy

sica

l m

easu

rem

ents

, and

it w

as th

en

dete

rmin

ed w

heth

er a

follo

w-

up s

essi

on in

per

son

with

a

cons

ulta

nt w

as re

quire

d.

Eval

uatio

n of

a te

lege

netic

s pi

lot

proj

ect.

Cro

ss-s

ectio

nal q

uant

itativ

e sa

tisfa

ctio

n qu

estio

nnai

re

com

plet

ed p

ostc

onsu

ltatio

n by

pat

ient

s an

d pr

imar

y-ca

re

prov

ider

s. T

elep

hone

inte

rvie

ws

to a

sses

s qu

alita

tive

para

met

ers

cond

ucte

d w

ith s

ix p

atie

nts

and

eigh

t pro

vide

rs.

Post

cons

ulta

tion

mea

sure

s: -

Satis

fact

ion

(pat

ient

s an

d pr

imar

y-ca

re p

rovi

ders

).

Eigh

teen

per

cent

of t

he c

are

prov

ider

s co

mpl

eted

the

eval

uatio

n,

mea

n sa

tisfa

ctio

n sc

ore

was

3.8

3 of

4.

Min

or d

iffic

ultie

s re

port

ed w

ith

conn

ectio

ns a

nd th

e eq

uipm

ent.

Tw

enty

-fiv

e pe

rcen

t of t

he p

atie

nts

com

plet

ed th

e ev

alua

tion,

mea

n sa

tisfa

ctio

n sc

ore

was

3.5

6 of

4.

All

patie

nts

repo

rted

con

veni

ence

in

term

s of

redu

ced

trav

el. T

wo

patie

nts

wou

ld ra

ther

hav

e se

en th

e do

ctor

in p

erso

n. P

rovi

ders

felt

that

pa

tient

s’ p

robl

ems

wer

e un

ders

tood

an

d ad

dres

sed

corr

ectly

. Dra

wba

cks

incl

uded

lack

of h

ands

-on

exam

inat

ion,

but

this

was

dee

med

no

t crit

ical

. The

con

sulti

ng

gene

ticis

t and

neu

rolo

gist

felt

conf

iden

t in

eval

uatin

g pa

tient

s vi

a te

lem

edic

ine.

Tele

med

icin

e of

fers

an

acce

ptab

le a

nd

acce

ssib

le s

olut

ion

to m

eet t

he g

row

ing

dem

and

for g

enet

ics

cons

ulta

tions

fr

om in

divi

dual

s w

ho li

ve fa

r fro

m

gene

tics

serv

ices

cen

ters

. Tel

egen

etic

s is

sui

tabl

e fo

r phy

sica

l exa

min

atio

n,

dysm

orph

olog

y ev

alua

tions

, and

pr

enat

al a

nd c

ance

r-re

late

d ge

netic

s co

unse

ling.

Fun

ding

may

be

a ba

rrie

r to

sus

tain

ing

tele

gene

tics

serv

ices

, al

thou

gh c

ost s

avin

gs a

re m

ade

thro

ugh

redu

ctio

ns in

sta

ff tr

avel

to re

mot

e si

tes.

tab

le 2

co

nti

nu

ed o

n n

ext

pag

e.


Review of telegenetics | HILGART et al SyStematic reviewta

ble

2 C

on

tin

ued

.

Au

tho

r an

d

loca

tio

n

Rea

son

(s)

for

gen

etic

s co

nsu

ltat

ion

an

d s

ervi

ce(s

) p

rovi

ded

stu

dy

des

ign

an

d m

eth

od

sO

utc

om

e m

easu

res

Key

fin

din

gs

co

ncl

usi

on

s

Mer

opol

et a

l.26

USA

Fam

ily h

isto

ry o

f col

orec

tal o

r br

east

/ova

rian

canc

er.

Con

sent

ing

part

icip

ants

w

ere

sent

a W

eb-c

amer

a an

d vi

deoc

onfe

renc

ing

soft

war

e al

ong

with

inst

ruct

ions

. Pa

rtic

ipan

ts w

ere

show

n a

20-m

in e

duca

tiona

l vid

eo a

bout

ca

ncer

gen

etic

s fo

llow

ed b

y a

coun

selin

g se

ssio

n w

ith th

e ge

netic

cou

nsel

or.

Feas

ibili

ty s

tudy

of t

eleg

enet

ic

coun

selin

g fo

r can

cer w

ith g

enet

ic

coun

selo

r in

patie

nts’

hom

es,

usin

g vi

deoc

onfe

renc

ing

soft

war

e (n

= 3

1; 1

8 pr

oban

ds,1

3 fa

mily

m

embe

rs).

Qua

ntita

tive

cros

s-se

ctio

nal

ques

tionn

aire

com

plet

ed

post

coun

selin

g.

Post

coun

selin

g m

easu

res:

-Tec

hnic

al fe

asib

ility

- Edu

catio

n an

d in

form

atio

n - C

omm

unic

atio

n - P

sych

osoc

ial c

omfo

rt

of th

e pr

oban

d du

ring

coun

selin

g - S

atis

fact

ion

with

co

unse

ling

sess

ion

and

pref

eren

ce fo

r te

lege

netic

s.

Twen

ty-s

ix (8

4%) o

f the

par

ticip

ants

re

ceiv

ed c

ouns

elin

g at

a re

mot

e lo

catio

n. P

artic

ipan

ts w

ere

satis

fied

with

the

tech

nolo

gy (m

ean

scor

e 4.

3 of

5) a

lthou

gh m

ost e

xper

ienc

ed

som

e te

chni

cal p

robl

ems.

Hig

h sa

tisfa

ctio

n w

ith e

duca

tion

and

info

rmat

ion

(mea

n sc

ore

4.7)

. Pa

rtic

ipan

ts le

arne

d ab

out t

heir

risk

for c

ance

r and

rece

ived

suf

ficie

nt

info

rmat

ion

abou

t gen

etic

test

ing

(mea

n =

4.7

). Pa

tient

s w

ere

satis

fied

with

com

mun

icat

ion

(mea

n =

4.8

). Fi

fty-

thre

e pe

rcen

t agr

eed

that

the

sess

ion

mad

e th

em fe

el le

ss a

nxio

us

abou

t the

ir ca

ncer

risk

. Tw

enty

-tw

o pe

rcen

t fel

t unc

omfo

rtab

le w

ith

bein

g se

en o

n th

e co

mpu

ter s

cree

n an

d 10

% fe

lt th

e se

ssio

n w

as to

o im

pers

onal

. All

the

patie

nts

wou

ld

reco

mm

end

the

sess

ion

to o

ther

s.

Nin

e pa

tient

s w

ould

hav

e pr

efer

red

to h

ave

face

-to-

face

cou

nsel

ing.

Patie

nt s

atis

fact

ion

with

tele

gene

tics

coun

selin

g fo

r can

cer i

s hi

gh, a

nd it

m

ay th

eref

ore

be a

feas

ible

alte

rnat

ive

to fa

ce-t

o-fa

ce c

ouns

elin

g se

ssio

ns.

Patie

nts

rece

ivin

g te

lege

netic

s co

unse

ling

may

requ

ire te

chni

cal

supp

ort t

hat c

an b

e ac

cess

ed fr

om

thei

r hom

es th

roug

h th

e In

tern

et. T

his

requ

ires

high

-spe

ed In

tern

et a

cces

s, a

nd

this

may

pot

entia

lly p

lace

a li

mita

tion

on u

ptak

e.

Stal

ker e

t al.36

USA

Pedi

atric

gen

etic

s re

ferr

als

requ

iring

dys

mor

phol

ogy

exam

inat

ion.

Patie

nts

seen

by

gene

tic

coun

selo

r via

vid

eoco

nfer

enci

ng

to g

athe

r fam

ily a

nd m

edic

al

hist

ory.

Ped

iatr

icia

n th

en

perf

orm

ed p

hysi

cal e

xam

inat

ion

and

requ

este

d ap

prop

riate

te

stin

g. C

ompl

ex c

ases

wer

e sc

hedu

led

for f

ace-

to-f

ace

cons

ulta

tion

with

clin

ical

ge

netic

ist.

An

eval

uatio

n of

ped

iatr

ic

tele

gene

tics

cons

ulta

tions

(n

= 4

0). P

atie

nts

with

sim

ple

com

plai

nts

such

as

clef

t lip

wer

e se

lect

ed b

y th

e ge

netic

ist a

nd

gene

tic c

ouns

elor

for i

nclu

sion

in

the

tele

gene

tics

clin

ic.

Post

cons

ulta

tion

cros

s-se

ctio

nal

quan

titat

ive

surv

ey c

ompl

eted

by

pare

nts.

Post

cons

ulta

tion

mea

sure

s: - S

atis

fact

ion

with

te

lege

netic

s ev

alua

tion

- Dia

gnos

tic e

ffec

tiven

ess

asse

ssed

by

com

parin

g di

agno

ses

mad

e vi

a te

lem

edic

ine

and

thos

e m

ade

whe

n pa

tient

s re

turn

ed fo

r a

follo

w-u

p fa

ce-t

o-fa

ce

appo

intm

ent.

All

pare

nts

agre

ed th

at th

e te

lem

edic

ine

eval

uatio

n of

thei

r ch

ild w

as a

ppro

pria

te a

nd th

at th

eir

child

’s pr

ivac

y w

as p

rote

cted

. One

pa

tient

wou

ld h

ave

pref

erre

d a

face

-to-

face

app

oint

men

t. W

aitin

g tim

es w

ere

redu

ced

from

16.

9 m

onth

s to

3.0

mon

ths

(P

< 0

.000

1). D

iagn

oses

wer

e

mad

e fo

r sev

en c

hild

ren,

and

th

ese

wer

e co

nfirm

ed in

the

trad

ition

al g

enet

ics

clin

ic. N

o te

lege

netic

s di

agno

ses

wer

e su

bseq

uent

ly ju

dged

to b

e in

corr

ect.

All

the

clin

icia

ns in

dica

ted

a hi

gh le

vel o

f com

fort

with

the

secu

rity

and

effic

ienc

y of

the

tele

gene

tics

clin

ic.

Tele

med

icin

e is

an

effe

ctiv

e m

ediu

m

for t

he d

iagn

osis

of d

ysm

orph

olog

ic

synd

rom

es a

nd c

an id

entif

y pa

tient

s w

ho a

re in

nee

d of

furt

her “

hand

s on

” re

view

. Tel

egen

etic

s re

duce

s w

aitin

g tim

es a

nd tr

avel

cos

ts fo

r pat

ient

s,

and

allo

ws

a qu

icke

r eva

luat

ion

and

diag

nosi

s.

tab

le 2

co

nti

nu

ed o

n n

ext

pag

e.


HILGART et al | Review of telegeneticsSyStematic reviewta

ble

2 C

on

tin

ued

.

Au

tho

r an

d

loca

tio

n

Rea

son

(s)

for

gen

etic

s co

nsu

ltat

ion

an

d s

ervi

ce(s

) p

rovi

ded

stu

dy

des

ign

an

d m

eth

od

sO

utc

om

e m

easu

res

Key

fin

din

gs

co

ncl

usi

on

s

Zilli

acus

et a

l.32

Aus

tral

iaW

omen

with

a fa

mily

his

tory

of

brea

st/o

varia

n ca

ncer

.Th

e w

omen

att

ende

d an

ou

trea

ch c

linic

with

a g

enet

ic

coun

selo

r and

com

mun

icat

ed

with

the

gene

ticis

t via

vi

deoc

onfe

renc

ing.

Qua

litat

ive

stud

y of

wom

en’s

expe

rienc

e of

tele

gene

tics

coun

selin

g fo

r her

edita

ry b

reas

t an

d/or

ova

rian

canc

er (n

= 1

2).

Sem

i-str

uctu

red

inte

rvie

ws

cond

ucte

d af

ter t

he te

lege

netic

s co

nsul

tatio

n.

Inte

rvie

ws

expl

ored

pa

tient

sat

isfa

ctio

n w

ith

the

tech

nolo

gy a

nd th

eir

inte

ract

ion

with

gen

etic

s pr

ofes

sion

als.

All

the

wom

en fe

lt po

sitiv

e ab

out t

he te

chno

logy

and

the

maj

ority

(n =

11)

wer

e sa

tisfie

d w

ith th

e in

tera

ctio

n w

ith th

eir

gene

tics

clin

icia

n. N

ine

of th

e w

omen

wou

ld b

e ha

ppy

to h

ave

a te

lege

netic

s co

nsul

tatio

n ag

ain,

w

here

as 7

pre

ferr

ed to

mee

t the

cl

inic

ian

in p

erso

n. A

ll th

e w

omen

re

port

ed fe

elin

g a

subt

le d

iffer

ence

be

twee

n te

lege

netic

s an

d fa

ce-

to-f

ace

inte

ract

ions

. Ele

ven

of th

e w

omen

des

crib

ed a

hig

h de

gree

of

‘soc

ial p

rese

nce’

that

led

to

incr

ease

d co

mfo

rt w

ith te

chno

logy

. A

ll th

e w

omen

felt

at e

ase

in

com

mun

icat

ing

with

the

clin

icia

n an

d co

unse

lor.

The

adva

ntag

e m

ost

com

mon

ly c

ited

was

redu

ctio

n in

tr

avel

tim

e.

Wom

en w

ere

high

ly s

atis

fied

with

te

lem

edic

ine

cons

ulta

tions

for

here

dita

ry b

reas

t/ov

aria

n ca

ncer

be

caus

e of

redu

ced

trav

el a

nd

asso

ciat

ed c

osts

. Tel

egen

etic

s co

unse

ling

may

be

part

icul

arly

ap

prop

riate

for t

hose

who

se n

eed

for

psyc

hoso

cial

sup

port

is lo

w.

Zilli

acus

et a

l.33

Aus

tral

iaW

omen

with

a fa

mily

his

tory

of

brea

st/o

varia

n ca

ncer

.W

omen

att

endi

ng g

enet

ic

coun

selin

g fo

r the

firs

t tim

e w

ere

invi

ted

to p

artic

ipat

e in

the

tele

gene

tics

cons

ulta

tion.

The

w

omen

att

ende

d an

out

reac

h cl

inic

with

a g

enet

ic c

ouns

elor

an

d co

mm

unic

ated

with

a

gene

ticis

t via

vid

eoco

nfer

enci

ng.

Pros

pect

ive

stud

y of

wom

en’s

expe

rienc

e of

tele

gene

tics

coun

selin

g fo

r her

edita

ry b

reas

t an

d/or

ova

rian

canc

er (n

= 1

06)

vs. f

ace-

to-f

ace

coun

selin

g

(n =

89)

.Q

uant

itativ

e qu

estio

nnai

re

com

plet

ed p

re- a

nd

post

coun

selin

g.

Pre-

and

pos

tcou

nsel

ing

mea

sure

s: - K

now

ledg

e ab

out t

he

gene

tics

of b

reas

t can

cer

- Per

ceiv

ed p

erso

nal

cont

rol

- Im

pact

of E

vent

s Sc

ale

(can

cer-

spec

ific

anxi

ety)

- Hos

pita

l Anx

iety

and

D

epre

ssio

n Sc

ale

- Med

ical

Inte

rvie

w

Satis

fact

ion

Scal

e - C

onsu

ltatio

n an

d re

latio

nal e

mpa

thy

-Tel

egen

etic

s sa

tisfa

ctio

n.

Kno

wle

dge

of h

ered

itary

bre

ast a

nd

ovar

ian

canc

er in

crea

sed

(P

< 0

.001

) and

per

ceiv

ed c

ontr

ol

decr

ease

d (P

< 0

.001

) ove

r tim

e in

bot

h te

lege

netic

s an

d fa

ce-

to-f

ace

grou

ps. N

o ch

ange

s fo

und

in c

ance

r-sp

ecifi

c an

xiet

y,

gene

ral a

nxie

ty, a

nd d

epre

ssio

n in

ei

ther

gro

up. I

n te

rms

of c

ance

r-sp

ecifi

c an

xiet

y, fa

ce-t

o-fa

ce a

nd

tele

gene

tics

coun

selin

g w

ere

foun

d to

hav

e eq

uiva

lent

out

com

es

(P =

0.1

3). N

o be

twee

n-gr

oup

diff

eren

ces

wer

e fo

und

with

resp

ect

to c

hang

e sc

ores

for k

now

ledg

e,

gene

ral a

nxie

ty, a

nd d

epre

ssio

n.

No

betw

een-

grou

p di

ffer

ence

s as

re

gard

s sa

tisfa

ctio

n an

d pe

rcei

ved

clin

icia

n an

d co

unse

lor e

mpa

thy.

Se

ven

perc

ent o

f tel

emed

icin

e gr

oup

wou

ld p

refe

r a fa

ce-t

o-fa

ce

appo

intm

ent.

Thi

rty-

thre

e pe

rcen

t w

ould

pre

fer t

eleg

enet

ics

agai

n.

Tele

gene

tics

coun

selin

g w

as a

t lea

st

as e

ffec

tive

as fa

ce-t

o-fa

ce g

enet

ics

coun

selin

g ac

ross

all

outc

omes

m

easu

red.

It p

erfo

rmed

bet

ter i

n in

crea

sing

per

ceiv

ed p

erso

nal c

ontr

ol. I

t is

ther

efor

e a

viab

le a

ltern

ativ

e m

etho

d of

ser

vice

del

iver

y to

rura

l and

out

reac

h ar

eas.

tab

le 2

co

nti

nu

ed o

n n

ext

pag

e.



Overall, the studies included in this review are heterogeneous and vary in quality. Most of the studies had limitations of small sample sizes that precluded the use of statistical analyses. The limitations also included retrospective study designs and the lack of comparison groups, and the data were therefore subject to bias.

satisfaction with telegenetics servicesAll the studies reported high levels of patient satisfaction with the telegenetics services, as ascertained through questionnaires or interviews. Patients were generally satisfied with the tech-nology used, the education and information provided, and the opportunity to communicate with genetics professionals without having to travel long distances. Those involved in the care of pediatric patients felt that telemedicine was an effec-tive medium through which to evaluate genetic conditions in their children.35–37 Where a comparison group was utilized, the satisfaction levels of those receiving telegenetics services were generally no different from those in the group receiving face-to-face counseling. Indeed, in one study, the satisfaction level in the telegenetics group was higher than in the control group.28 The studies reported several benefits of telegenetics services: conve-nience, reduced travel time and associated costs, and reduced waiting times to see a genetics specialist.36 Patients tended to be more satisfied than the genetics practitioners with telegenet-ics counseling.24,29,37,38 Patients viewed the technical difficulties involved as being less problematic, and were more satisfied with the rapport established with the genetics professional.

In a study by Gray et al.,24,38 nursing staff expressed dissat-isfaction with telegenetics because they felt excluded from the geneticist–patient interaction and less able to observe the non-verbal behavior of patients. Similarly, in a study by Zilliacus et al.,30,31 genetics practitioners reported that there were disad-vantages to telegenetics counseling for patients with hereditary breast/ovarian cancer, including inhibition of rapport between the geneticist and the patient, and difficulty for the practitioner in detecting nonverbal cues from patients. Patients may have been more satisfied with telegenetics consultations because of the savings in travel time and costs; a majority of the patients preferred to receive genetic counseling services in a local set-ting. In many studies, patients who received telegenetics coun-seling were asked whether they would have preferred to have a face-to-face appointment. Women receiving genetic counseling for cancer would be happy to have another telegenetics consul-tation, but a majority (n = 7) wanted to meet the geneticist in person.32 A study by Meropol et al.,26 reported that all the par-ticipants would recommend telegenetics counseling to other patients, although nine of them (29%) agreed that they would have preferred a face-to-face session. In Abrams and Grier’s34 study of prenatal telegenetics counseling, only one participant would have preferred an in-person counseling session instead.

Affective outcomesThe three studies that reported on affective outcomes of telege-netics consultations used prospective study designs. All three ta

ble

2 C

on

tin

ued

.

Au

tho

r an

d

loca

tio

n

Rea

son

(s)

for

gen

etic

s co

nsu

ltat

ion

an

d s

ervi

ce(s

) p

rovi

ded

stu

dy

des

ign

an

d m

eth

od

sO

utc

om

e m

easu

res

Key

fin

din

gs

co

ncl

usi

on

s

Zilli

acus

et

al.30

,31

Aus

tral

ia

Wom

en w

ith a

fam

ily h

isto

ry o

f br

east

/ova

rian

canc

er.

Wom

en w

ith a

fam

ily h

isto

ry

of b

reas

t and

/or o

varia

n ca

ncer

at

tend

ed a

n ou

trea

ch c

linic

w

ith a

gen

etic

cou

nsel

or a

nd

com

mun

icat

ed w

ith a

gen

etic

ist

via

vide

ocon

fere

ncin

g.

Qua

litat

ive

stud

y of

gen

etic

s pr

actit

ione

rs’ e

xper

ienc

es o

f de

liver

ing

gene

tics

coun

selin

g vi

a te

lem

edic

ine

(n =

15;

six

ge

netic

s cl

inic

ians

, nin

e ge

netic

s co

unse

lors

).Se

mi-s

truc

ture

d in

terv

iew

s co

nduc

ted

post

coun

selin

g.

Inte

rvie

ws

expl

ored

pr

actit

ione

rs’ e

xper

ienc

es,

satis

fact

ion,

adv

anta

ges

and

disa

dvan

tage

s of

the

tech

nolo

gy, a

nd th

eir

perc

eive

d ro

le w

ithin

te

lehe

alth

.

All

the

prac

titio

ners

wer

e hi

ghly

sa

tisfie

d w

ith te

lege

netic

s co

nsul

tatio

ns. A

dvan

tage

s of

te

lege

netic

s in

clud

ed in

crea

sed

effic

ienc

y an

d co

nven

ienc

e fo

r ge

netic

ists

, red

uced

trav

el a

nd

asso

ciat

ed c

osts

for t

he p

atie

nt,

and

incr

ease

d ac

cess

for t

hose

in

rura

l are

as. D

isad

vant

ages

incl

uded

di

ffic

ulty

in e

stab

lishi

ng ra

ppor

t an

d in

det

ectin

g no

nver

bal c

ues.

Te

lege

netic

s co

nsul

tatio

ns w

ere

seen

as

allo

win

g le

ss ti

me

for e

mot

iona

l ex

plor

atio

n, a

nd a

s al

terin

g th

e ge

netic

clin

icia

n’s

role

to o

ne o

f a

“vis

iting

spe

cial

ist”

. Cou

nsel

ors

repo

rted

taki

ng o

n m

ultip

le ro

les

incl

udin

g fa

cilit

ator

, adm

inis

trat

ive

assi

stan

t, a

nd c

ouns

elor

, whi

ch th

ey

rega

rded

as

sim

ilar t

o th

eir r

oles

in

face

-to-

face

ses

sion

s.

Prac

titio

ners

wer

e sa

tisfie

d w

ith

tele

gene

tics

cons

ulta

tions

and

pe

rcei

ved

the

adva

ntag

es a

s ou

twei

ghin

g th

e di

sadv

anta

ges.

The

co

unse

lors

felt

them

selv

es to

be

inte

gral

to

the

over

all t

eleg

enet

ics

proc

ess.



studies reported that patients’ knowledge of genetics increased after the telegenetics consultations. Gray et al.,24 reported that general anxiety and cancer-specific anxiety decreased over time in those who received telegenetics counseling. Coelho et al.28 found significant decreases in anxiety levels after cancer genetics counseling in the telegenetics group (P = 0.00), the face-to-face group (P = 0.01), and the combined (telemedicine and face-to-face) group (P = 0.00). Zilliacus et al.33 reported no change in cancer-specific anxiety, general anxiety, or depression in either the telegenetics group or the face-to-face group in a cohort of women receiving genetics counseling for hereditary breast/ovarian cancer. In studies that compared telegenetics groups with those receiving face-to-face consultations, there were no significant between-group differences in any of the affective outcome variables.28,33

clinical efficacyThree of the studies explored the effectiveness of telegenetics in diagnosing genetics-related conditions in pediatric patients.35–37 In a study by Stalker et al.,36 a genetics counselor ascertained the family history and a pediatrician performed a physical exami-nation to screen for potential genetic syndromes. The first eight patients evaluated via telemedicine were also assessed in person by a clinical geneticist. Diagnoses were made for seven of the children via telegenetics, and these were confirmed in the face-to-face genetics clinic. No new diagnoses were made in the face-to-face sessions that had not been identified in the telegenetics sessions, and none of the diagnoses made through telegenetics were deemed inaccurate. The authors concluded that telegenet-ics was successful in identifying individuals in need of further hands-on dysmorphologic review and in providing quicker confirmation of the absence of a particular genetic syndrome. Lea et al.37 also reported that telegenetics was effective as a dys-morphology screening tool, because patients could be referred for an in-person evaluation if a dysmorphologic genetic syn-drome was suspected. However, in a study by Hopper et al.,35 one referring pediatrician was of the opinion that several physi-cal characteristics could potentially be missed in a telegenetics consultation. In that study, the genetics counselor took physical measurements and still images of the patients while a camera transmitted a live feed to the clinical geneticist. Face-to-face ses-sions were arranged 3 weeks after the telegenetics sessions. The measurements taken in person by the genetics counselors and those ascertained by the clinical geneticist from the live feeds of images varied slightly but did not affect either the assessments or the diagnoses. The authors of the study concluded that, with an increase in shared telegenetics experience between the genet-ics counselor and the geneticist, dysmorphologic assessment of children via telegenetics consultations will improve.

costs of telegeneticsNone of the studies included in our review formally measured the costs of telegenetics services. Most of the studies reported that patients made savings in terms of travel time and costs by receiving telegenetics services rather than face-to-face genetics

services. In one study, telegenetics was estimated to confer an average saving of $1,000 per person.29 The same authors also concluded that videoconferencing is less expensive than out-reach programs. They estimated that, in Canada, it would cost $700 for a genetics counselor to travel to a specific site to pro-vide outreach care for 12 patients at a 2-day clinic. In contrast, the costs associated with the same number of appointments through videoconferencing are negligible, provided the neces-sary equipment is already available and in place.29

discUssiOnOur review shows that patients are generally highly satisfied with the use of telemedicine in genetics service delivery, includ-ing genetics counseling and diagnoses of pediatric genetic con-ditions. The studies included in the review also show that the affective outcomes for patients receiving telegenetics consulta-tions are comparable to those for patients receiving face-to-face consultations. This suggests that telegenetics is acceptable to patients and does not appear to have any detrimental effects on patient anxiety. Neither the type of health professional involved in the telemedicine consultation nor the presence of a genetics nurse/counselor at the outreach site appeared to affect patient satisfaction. Comparable results were reported from the various studies conducted in different countries. The opinions of genet-ics practitioners regarding telegenetics services were not always as positive, and many expressed concerns about the difficulty in establishing a rapport with patients via telemedicine and diffi-culties associated with the use of the technology. Many of the studies concluded that, with appropriate training and growing experience with telegenetics services, genetics practitioners will become more accepting of the technology. In a study by Lea et al.,37 practitioners rated telegenetics services higher after they had personally provided these services, suggesting that familiar-ity and confidence with using the technology will reduce prac-titioners’ resistance to adopting telegenetics services. Although most patients appreciated the fact that telegenetics counseling had the benefits of reduced waiting times and/or shorter travel distances, there is a need to be cautious when interpreting data from patient surveys regarding telegenetics consultations. These patients have received a service they ordinarily would not have, and they may therefore feel obligated to endorse it.39 This is espe-cially relevant in studies wherein patients were allowed to choose whether to receive telegenetics services or face-to-face services (e.g., the studies by d’Agincourt-Canning et al.,29 and Meropol et al.26 Indeed, previous research has found that patients who were able to choose how they received their BRCA1/2 genetic test result—whether by telephone or in person—reported higher levels of satisfaction than patients who did not have a choice.22 Studies with random assignment to telegenetics services or face-to-face services may help to reduce this response bias.

It could also be argued that the selection of new referrals for telegenetics consultations may introduce some bias into research results (e.g., the study by Stalker et al. 36). 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. In the study by d’Agincourt-Canning et al.,29 some participants reported that they would not have followed through with their referral to the Hereditary Cancer Program had they been unable to have an appointment in their local area. Telemedicine may therefore extend access to remote populations and reduce waiting times to consult with genetics specialists, and thereby increase the capacity to provide genetics services to those who require them and not just to those fortu-nate enough to live close to genetics centers.21,39

The cost–utility assessment of providing telegenetics ser-vices, including costs of equipment, transmission lines, train-ing, and personnel has not been formally carried out, and is 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 in the UK. In the United States, reimbursement of telegenetics costs needs to be sufficient in order to provide sustainable tele-genetics clinics. This involves ensuring that telegenetics has the support of health insurers, not only the private insurance com-panies but also Medicare and Medicaid, which are the federal health insurers for the elderly and poor. To date, Medicaid does not universally reimburse for telemedicine consultations in all 50 states, nor do private payers. Under Medicare programs there are also wide variations in service coverage, payment policies, and other stipulations,40 and these are considered to be barriers to the long-term sustainability and expansion of telemedicine services.41–43 Whitten and Buis41 suggest that, in order to pro-mote more consistent reimbursement for telemedicine services, it is essential that both consumer demand and provider accep-tance for these services increase. They also suggest that demon-strating the clinical effectiveness of telemedicine will encourage reimbursement for these services in the long term. Our review has demonstrated that patients are generally satisfied with tele-genetics, but that further research is needed to explore beyond self-reported measures of patient satisfaction and fully inves-tigate patient outcomes so as to determine whether quality of care is affected by the type of consultation received.44,45

conclusionsAlthough the studies relating to the use of telegenetics are few in number to date and generally small in sample size, they sug-gest that telegenetics may be appropriate for providing additional genetics services to reduce inequalities in access to genetics spe-cialists. Telemedicine technology is being utilized in many medi-cal specialties; teledermatology, telepsychiatry, and teleradiol-ogy are already being used, and the delivery of genetics services through telegenetics could be a feasible approach. The studies included in this review suggest that telegenetics may not only be a useful tool to provide routine counseling and follow-up appoint-ments, but that it also has the potential to evaluate and diagnose pediatric patients with suspected genetic conditions. Prospective, fully powered, and well designed studies of telegenetics services, assessing the accuracy of diagnoses, the impact of receiving a diagnosis this way, and patient outcomes are needed to make

informed decisions about the appropriate use of telemedicine in genetics service delivery.

ACKNOWLEDGMENTThis review was funded by Tenovus, the cancer charity in Wales.

DISCLOSUREThe authors declare no conflict of interest.

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