Communication of Information about Genetic Risks: Putting Families at the Center

• Author: Alison Metcalfe,Angus J. Clarke,Jorge Sequeiros,Milena Paneque,Liliana Sousa,Álvaro Mendes
• DOI: http://doi.org/10.1111/famp.12306
• Published date: 01 September 2018
• Date: 01 September 2018

Communication of Information about Genetic Risks:

Putting Families at the Center



ALVARO MENDES*

ALISON METCALFE

†

MILENA PANEQUE*

LILIANA SOUSA

‡,§

ANGUS J. CLARKE

¶

JORGE SEQUEIROS*

,

**

Genetic information is a family affair. With the expansion of genomic technologies,

many new causal genes and variants have been established and the potential for molec-

ular diagnoses increased, with implications not only for patients but also their rela-

tives. The need for genetic counseling and intrafamilial circulation of information on

genetic risks grew accordingly. Also, the amount and, particularly, the complexity of

the information to convey multiplied. Sharing information about genetic risks with

family members, however, has never been an easy matter and often becomes a source of

personal and familial conflicts and distress. Ethical requisites generally prevent health-

care professionals from directly contacting their consultands’ relatives (affected or still

at risk), who often feel unsupported throughout that process. We discuss here the com-

munication of genetic risks to family members. We first consider genomic testing as a

basis for family-centered health care, as opposed to a predominant focus on the individ-

ual. We reviewed the literature on sharing genetic risk information with family mem-

bers, and the associated ethical issues for professionals. Some clinical cases are

presented and discussed, and key issues for meeting the needs of individuals and fami-

lies are addressed. We argue that genetic information is inextricably linked to the fam-

ily and that communicating about genetic risks is a process grounded within the

broader milieu of family relationships and functioning. We conclude for the need for a

more family-centered approach and interventions that can promote sensitive attitudes

to the provision of genetic information to and within the family, as well as its inclusion

in educational and training programmes for genetic healthcare professional s.

Keywords: Genetic Information; Genetic Counseling; Genetic Testing; Genetic Risk;

Genomics; Family Communication; Family-Centered Care

Fam Proc 57:836–846, 2018

*UnIGENe and Centre for Predictive and Preventive Genetics (CGPP), IBMC—Institute for Molecular and Cell

Biology, i3S—Instituto de Investigac

ß

~

ao e Inovac

ß

~

ao em Sa

ude, Universidade do Porto, Porto, Portugal.

†

Florence Nightingale Faculty of Nursing and Midwifery, King’s College, London, UK.

‡

Department of Education and Psychology, University of Aveiro, Aveiro, Portugal.

§

Cintesis.ua, Center for Health Technology and Services Research, University of Aveiro, Aveiro, Portugal.

¶

School of Medicine, Institute of Medical Genetics, Cardiff University, Wales, UK.

**ICBAS—Instituto de Ci^

encias Biom

edicas Abel Salazar, Universidade do Porto, Porto, Portugal.

Correspondence concerning this article should be addressed to



Alvaro Mendes, CGPP-IBMC, i3S –

Instituto de Investigac

ß

~

ao e Inovac

ß

~

ao em Sa

ude, Rua J

ulio A. Carvalho, 45, 4200-180 Porto, Portugal.

E-mail: alvaro.mendes@ibmc.up.pt

836

Family Process, Vol. 57, No. 3, 2018 ©2017 Family Process Institute

doi: 10.1111/famp.12306