Incorporating information regarding preimplantation genetic diagnosis into discussions concerning testing and risk management for BRCA1/2 mutations

BACKGROUND: Studies have shown that BRCA1/2 mutation carriers are interested in learning about reproductive options such as preimplantation genetic diagnosis (PGD) to prevent passing their risk onto their children. However, attitudes vary widely, and the procedure raises complex ethical and psychoso...

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Published inCancer Vol. 118; no. 24; pp. 6270 - 6277
Main Authors Hurley, Karen, Rubin, Lisa R., Werner‐Lin, Allison, Sagi, Michal, Kemel, Yelena, Stern, Rikki, Phillips, Aliza, Cholst, Ina, Kauff, Noah, Offit, Kenneth
Format Journal Article
LanguageEnglish
Published Hoboken Wiley Subscription Services, Inc., A Wiley Company 15.12.2012
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ISSN0008-543X
1097-0142
DOI10.1002/cncr.27695

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Abstract BACKGROUND: Studies have shown that BRCA1/2 mutation carriers are interested in learning about reproductive options such as preimplantation genetic diagnosis (PGD) to prevent passing their risk onto their children. However, attitudes vary widely, and the procedure raises complex ethical and psychosocial issues. This complexity, plus the highly technical nature of PGD, makes it difficult to integrate PGD information into genetic counseling sessions that already cover probabilistic, emotionally charged risk information. METHODS: A total of 33 carriers of the BRCA1/2 mutation who were of reproductive age and had previously undergone genetic counseling viewed a tutorial regarding PGD and were interviewed concerning their attitudes toward PGD and preferences about how to include PGD information in genetic counseling. RESULTS: The majority of participants preferred to be briefly informed of the availability of PGD information, and to receive written materials regarding PGD, but with the option of deferring detailed discussion if they already believed themselves to be overloaded or perceived that PGD was not immediately relevant to their risk management and/or childbearing plans. For some individuals, the stress of testing temporarily interfered with information processing, producing states of cognitive avoidance (“in a fog,” or “tuning out”). Some preferred to discuss PGD with a physician with whom they had an ongoing relationship (eg, obstetrician/gynecologist, primary care provider, or oncologist). CONCLUSIONS: Providers offering cancer genetic testing may consider indicating the availability of PGD information to their patients, while attending to the patients' level of interest and ability to absorb information. Research is needed to link patient responses to information overload with psychosocial outcomes (eg, distress, and quality of decision‐making). Continuing medical education is needed to support providers in facilitating informed decisions regarding PGD. Cancer 2012. © 2012 American Cancer Society. A total of 33 participants in the current study who were BRCA1/2 mutation carriers and were of reproductive age and had previously undergone genetic counseling viewed a tutorial regarding PGD. The majority of individuals indicated that they preferred to be briefly informed of the availability of information regarding preimplantation genetic diagnosis (PGD), and to receive written materials concerning PGD, but with the option of deferring detailed discussion if they already believed themselves to be overloaded or perceived that PGD was not immediately relevant to their risk management and/or childbearing plans. Providers offering cancer genetic testing can consider indicating that PGD information is available, while attending to the patients' level of interest and ability to absorb information.
AbstractList BACKGROUND: Studies have shown that BRCA1/2 mutation carriers are interested in learning about reproductive options such as preimplantation genetic diagnosis (PGD) to prevent passing their risk onto their children. However, attitudes vary widely, and the procedure raises complex ethical and psychosocial issues. This complexity, plus the highly technical nature of PGD, makes it difficult to integrate PGD information into genetic counseling sessions that already cover probabilistic, emotionally charged risk information. METHODS: A total of 33 carriers of the BRCA1/2 mutation who were of reproductive age and had previously undergone genetic counseling viewed a tutorial regarding PGD and were interviewed concerning their attitudes toward PGD and preferences about how to include PGD information in genetic counseling. RESULTS: The majority of participants preferred to be briefly informed of the availability of PGD information, and to receive written materials regarding PGD, but with the option of deferring detailed discussion if they already believed themselves to be overloaded or perceived that PGD was not immediately relevant to their risk management and/or childbearing plans. For some individuals, the stress of testing temporarily interfered with information processing, producing states of cognitive avoidance (“in a fog,” or “tuning out”). Some preferred to discuss PGD with a physician with whom they had an ongoing relationship (eg, obstetrician/gynecologist, primary care provider, or oncologist). CONCLUSIONS: Providers offering cancer genetic testing may consider indicating the availability of PGD information to their patients, while attending to the patients' level of interest and ability to absorb information. Research is needed to link patient responses to information overload with psychosocial outcomes (eg, distress, and quality of decision‐making). Continuing medical education is needed to support providers in facilitating informed decisions regarding PGD. Cancer 2012. © 2012 American Cancer Society. A total of 33 participants in the current study who were BRCA1/2 mutation carriers and were of reproductive age and had previously undergone genetic counseling viewed a tutorial regarding PGD. The majority of individuals indicated that they preferred to be briefly informed of the availability of information regarding preimplantation genetic diagnosis (PGD), and to receive written materials concerning PGD, but with the option of deferring detailed discussion if they already believed themselves to be overloaded or perceived that PGD was not immediately relevant to their risk management and/or childbearing plans. Providers offering cancer genetic testing can consider indicating that PGD information is available, while attending to the patients' level of interest and ability to absorb information.
Author Kauff, Noah
Hurley, Karen
Rubin, Lisa R.
Cholst, Ina
Sagi, Michal
Phillips, Aliza
Kemel, Yelena
Offit, Kenneth
Werner‐Lin, Allison
Stern, Rikki
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Snippet BACKGROUND: Studies have shown that BRCA1/2 mutation carriers are interested in learning about reproductive options such as preimplantation genetic diagnosis...
SourceID wiley
SourceType Publisher
StartPage 6270
SubjectTerms BRCA1 gene
BRCA2 gene
genetic counseling
health communication
hereditary
neoplastic syndromes
preimplantation diagnosis
Title Incorporating information regarding preimplantation genetic diagnosis into discussions concerning testing and risk management for BRCA1/2 mutations
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