TY - JOUR
T1 - Improving family communication after a new genetic diagnosis
T2 - A randomised controlled trial of a genetic counselling intervention
AU - Hodgson, Jan Margaret
AU - Metcalfe, Sylvia Ann
AU - Aitken, Mary Anne
AU - Donath, Susan M.
AU - Gaff, Clara L.
AU - Winship, Ingrid M.
AU - Delatycki, Martin B.
AU - Skene, Loane L.C.
AU - McClaren, Belinda J.
AU - Paul, Jean L.
AU - Halliday, Jane L.
PY - 2014/3/14
Y1 - 2014/3/14
N2 - Background: Genetic information given to an individual newly diagnosed with a genetic condition is likely to have important health implications for other family members. The task of communicating with these relatives commonly falls to the newly diagnosed person. Talking to relatives about genetic information can be challenging and is influenced by many factors including family dynamics. Research shows that many relatives remain unaware of relevant genetic information and the possible impact on their own health. This study aims to evaluate whether a specific genetic counselling intervention for people newly diagnosed with a genetic condition, implemented over the telephone on a number of occasions, could increase the number of at-risk relatives who make contact with genetics services after a new genetic diagnosis within a family.Methods: This is a prospective, multi-centre randomised controlled trial being conducted at genetics clinics at five public hospitals in Victoria, Australia. A complex genetic counselling intervention has been developed specifically for this trial. Probands (the first person in a family to present with a diagnosis of a genetic condition) are being recruited and randomised into one of two arms - the telephone genetic counselling intervention arm and the control arm receiving usual care. The number of at-risk relatives for each proband will be estimated from a family pedigree collected at the time of diagnosis. The primary outcome will be measured by comparing the proportion of at-risk relatives in each arm of the trial who make subsequent contact with genetics services.Discussion: This study, the first randomised controlled trial of a complex genetic counselling intervention to enhance family communication, will provide evidence about how best to assist probands to communicate important new genetic information to their at-risk relatives. This will inform genetic counselling practice in the context of future genomic testing.Trial registration: Australia and New Zealand Clinical Trials Register (ANZCTR): ANZCTRN12608000642381.
AB - Background: Genetic information given to an individual newly diagnosed with a genetic condition is likely to have important health implications for other family members. The task of communicating with these relatives commonly falls to the newly diagnosed person. Talking to relatives about genetic information can be challenging and is influenced by many factors including family dynamics. Research shows that many relatives remain unaware of relevant genetic information and the possible impact on their own health. This study aims to evaluate whether a specific genetic counselling intervention for people newly diagnosed with a genetic condition, implemented over the telephone on a number of occasions, could increase the number of at-risk relatives who make contact with genetics services after a new genetic diagnosis within a family.Methods: This is a prospective, multi-centre randomised controlled trial being conducted at genetics clinics at five public hospitals in Victoria, Australia. A complex genetic counselling intervention has been developed specifically for this trial. Probands (the first person in a family to present with a diagnosis of a genetic condition) are being recruited and randomised into one of two arms - the telephone genetic counselling intervention arm and the control arm receiving usual care. The number of at-risk relatives for each proband will be estimated from a family pedigree collected at the time of diagnosis. The primary outcome will be measured by comparing the proportion of at-risk relatives in each arm of the trial who make subsequent contact with genetics services.Discussion: This study, the first randomised controlled trial of a complex genetic counselling intervention to enhance family communication, will provide evidence about how best to assist probands to communicate important new genetic information to their at-risk relatives. This will inform genetic counselling practice in the context of future genomic testing.Trial registration: Australia and New Zealand Clinical Trials Register (ANZCTR): ANZCTRN12608000642381.
KW - Disclosure
KW - Family communication
KW - Genetic counselling
KW - Genetic diagnosis
UR - http://www.scopus.com/inward/record.url?scp=84899149332&partnerID=8YFLogxK
U2 - 10.1186/1471-2350-15-33
DO - 10.1186/1471-2350-15-33
M3 - Article
C2 - 24628824
AN - SCOPUS:84899149332
SN - 1471-2350
VL - 15
JO - BMC Medical Genetics
JF - BMC Medical Genetics
IS - 1
M1 - 33
ER -