Communication of whole genome sequencing (WGS) results to patients is a key ethical and psychosocial issue, but more work has focused on whether to communicate results than how. Young breast cancer patients (diagnosed at d 40 years) are a key population for early application of WGS to identify cancer susceptibility alleles and mutations affecting treatment response, particularly those with a strong family history of breast cancer who do not carry a known BRCA1/2 mutation. However, little is known about their communication preferences regarding the content and delivery of WGS results. Based on an integrated conceptual framework of risk information and processing, we will examine young breast cancer patients'communication preferences for WGS results (i.e., content, delivery format, information source, timing) and factors that may affect these preferences (i.e., genetics-related beliefs, decision-making preferences, breast cancer recurrence worry, informational norms, health literacy). We will recruit all participants through the nationwide Young Women's Breast Cancer Research Program, focusing on four subgroups: those with a strong breast cancer family history and no identified BRCA1/2 mutation;with no identified BRCA1/2 mutation and no or moderate family history;BRCA1/2 mutation and a strong family history;and a strong family history who have not received genetic testing.
The specific aims are to: (1) investigate communication preferences for WGS results among young breast cancer patients;and (2) administer a survey to young breast cancer patients in order to examine (A) factors affecting communication preferences for WGS results among young breast cancer patients with a strong family history of breast cancer and no identified BRCA1/2 mutation and (B) compare communication preferences for WGS results among subgroups of young breast cancer patients. We will use a sequential mixed-methods design.
For Aim 1, we will conduct qualitative, semi-structured individual interviews with 60 young breast cancer patients, 15 per subgroup, and investigate communication preferences for WGS results. Based on these qualitative data, we will develop a survey for Aim 2.
In Aim 2, following cognitive testing of the survey with 12 young breast cancer patients, we will administer the survey online to 865 young breast cancer patients total in the four subgroups. We will examine whether preferences for communication of WGS results vary by genetics-related beliefs, decision-making preferences, breast cancer recurrence worry, informational norms, and health literacy among those with a strong breast cancer family history and no identified BRCA1/2 mutation. We will also compare communication preferences among the four subgroups in order to examine quantitatively the effects of family history, known BRCA 1/2 mutation status, and having had genetic testing. This study is innovative because of its focus on empirical questions related to communication of WGS results among a population relevant to early application of WGS. These findings will be critical in improving patient care by advancing our understanding of how to communicate WGS results to young breast cancer patients.

Public Health Relevance

Communication of whole genome sequencing (WGS) results to patients is a key ethical and psychosocial issue, but more work has focused on whether to communicate results than how. Young breast cancer patients (diagnosed at d 40 years) are a key population for early application of WGS, particularly those with a strong family history of breast cancer who do not carry a known BRCA1/2 mutation, but little is known about their communication preferences regarding the content and delivery of WGS results. Based on an integrated conceptual framework of risk information and processing, we will investigate communication preferences for WGS results and factors affecting these preferences among women diagnosed with breast cancer at age 40 or younger who are BRCA1/2 mutation negative with a strong family history of breast cancer and compare communication preferences between this patient population and other young breast cancer patients.

Agency
National Institute of Health (NIH)
Institute
National Cancer Institute (NCI)
Type
Research Project (R01)
Project #
5R01CA168608-02
Application #
8539481
Study Section
Special Emphasis Panel (ZRG1-NRCS-G (08))
Program Officer
Chou, Wen-Ying
Project Start
2012-09-01
Project End
2015-06-30
Budget Start
2013-07-01
Budget End
2014-06-30
Support Year
2
Fiscal Year
2013
Total Cost
$289,801
Indirect Cost
$76,101
Name
Washington University
Department
Surgery
Type
Schools of Medicine
DUNS #
068552207
City
Saint Louis
State
MO
Country
United States
Zip Code
63130
Wu, Yelena P; Nagelhout, Elizabeth; Aspinwall, Lisa G et al. (2018) A novel educational intervention targeting melanoma risk and prevention knowledge among children with a familial risk for melanoma. Patient Educ Couns 101:452-459
Wu, Yelena P; Aspinwall, Lisa G; Nagelhout, Elizabeth et al. (2018) Development of an Educational Program Integrating Concepts of Genetic Risk and Preventive Strategies for Children with a Family History of Melanoma. J Cancer Educ 33:774-781
Kaphingst, Kimberly A; Ivanovich, Jennifer; Lyons, Sarah et al. (2018) Preferences for learning different types of genome sequencing results among young breast cancer patients: Role of psychological and clinical factors. Transl Behav Med 8:71-79
Elrick, Ashley; Ashida, Sato; Ivanovich, Jennifer et al. (2017) Psychosocial and Clinical Factors Associated with Family Communication of Cancer Genetic Test Results among Women Diagnosed with Breast Cancer at a Young Age. J Genet Couns 26:173-181
Seo, Joann; Ivanovich, Jennifer; Goodman, Melody S et al. (2017) Information Topics of Greatest Interest for Return of Genome Sequencing Results among Women Diagnosed with Breast Cancer at a Young Age. J Genet Couns 26:511-521
Kaphingst, K A; Ivanovich, J; Biesecker, B B et al. (2016) Preferences for return of incidental findings from genome sequencing among women diagnosed with breast cancer at a young age. Clin Genet 89:378-84
Carere, Deanna Alexis; Kraft, Peter; Kaphingst, Kimberly A et al. (2016) Consumers report lower confidence in their genetics knowledge following direct-to-consumer personal genomic testing. Genet Med 18:65-72
Hartz, Sarah M; Olfson, Emily; Culverhouse, Robert et al. (2015) Return of individual genetic results in a high-risk sample: enthusiasm and positive behavioral change. Genet Med 17:374-9
Hidalgo, Bertha; Kaphingst, Kimberly A; Stafford, Jewel et al. (2015) Diagnostic accuracy of self-reported racial composition of residential neighborhood. Ann Epidemiol 25:597-604
Goodman, Melody S; Griffey, Richard T; Carpenter, Christopher R et al. (2015) Do Subjective Measures Improve the Ability to Identify Limited Health Literacy in a Clinical Setting? J Am Board Fam Med 28:584-94

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