Identification of Patients at High Risk of Psychological Distress After <i>BRCA1</i> Genetic Testing

Ertmański, Sławomir; Metcalfe, Kelly; Trempała, Janusz; Głowacka, Maria Danuta; Lubiński, Jan; Narod, Steven A.; Gronwald, Jacek

doi:10.1089/gtmb.2008.0126

Cited by 25 publications

(27 citation statements)

References 10 publications

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“…Similar to several other reports, our work confirms that pre-testing levels of distress is highly predictive of distress over time in both male and female BRCA1/2 carriers [35, 40, 41]. These convergent findings across multiple studies and various high-risk samples suggest that having genetic counselors or health-care professionals conduct brief pre-test assessments to identify patients most at risk for poorer psychosocial outcomes may be beneficial [40]. Both men and women at greater potential risk for experiencing heightened distress could then be connected with appropriate support resources and/or have additional psychosocial support programs [42] during and following the BRCA1/2 testing process.…”

Section: Discussionsupporting

confidence: 91%

BRCA1/2 genetic testing uptake and psychosocial outcomes in men

et al. 2011

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Few studies have quantitatively evaluated the uptake and outcomes of BRCA1/2 genetic counseling and testing in men. We conducted a prospective longitudinal study to describe and compare uptake of and psychosocial outcomes following BRCA1/2 testing in a sample of men and women at high-risk for carrying a BRCA1/2 mutation. Men (n = 98) and women (n = 243) unaffected with cancer completed baseline assessments prior to genetic counseling and testing and then 6- and 12-months post-testing. Most men (n = 94; 95.9%) opted to have genetic testing, of whom 44 received positive BRCA1/2 genetic test results and 50 received true negative results. Among women, 93.4% had genetic testing, of whom 79 received positive results and 148 received negative results. In multivariate models, male BRCA1/2 carriers reported significantly higher genetic testing distress (6-months: Z = 4.48, P < 0.0001; 12-months: Z = 2.78, P < 0.01) than male non-carriers. After controlling for baseline levels of distress, no statistically significant differences emerged between male and female BRCA1/2 carriers in psychological distress at 12-months post-testing, although absolute differences were evident over time. Predictors of distress related to genetic testing among male carriers at 12-months included higher baseline cancer-specific distress (Z = 4.73, P < 0.0001) and being unmarried (Z = 2.18, P < 0.05). Similarly, baseline cancer-specific distress was independently associated with cancer-specific distress at 6- (Z = 3.66, P < 0.001) and 12-months (Z = 4.44, P < 0.0001) post-testing among male carriers. Clinically, our results suggest that pre-test assessment of distress and creation of educational materials specifically tailored to the needs and concerns of male carriers may be appropriate in this important but understudied high-risk group.

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Section: Discussionsupporting

confidence: 91%

BRCA1/2 genetic testing uptake and psychosocial outcomes in men

et al. 2011

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“…People who expressed anticipatory worry related to SNP results appeared less interested in testing. Within the BRCA1/2 literature, pre-test anxiety or distress is frequently predictive of longer-term distress, regardless of whether the test result was positive or uninformative (Ertmanski et al, 2009; Graves et al, 2012). If SNP testing is ever incorporated into routine clinical practice, then attention to pre-testing levels of distress may be useful to help people make fully informed decisions about testing.…”

Section: Discussionmentioning

confidence: 99%

“Is it Really Worth it to Get Tested?”: Primary Care Patients’ Impressions of Predictive SNP Testing for Colon Cancer

Leventhal

Tuong

Peshkin

et al. 2012

Journal of Genetic Counseling

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Despite significant progress in genomics research over the past decade, we remain years away from the integration of genomics into routine clinical care. As an initial step toward the implementation of genomic-based medicine, we explored primary care patients’ ideas about genomic testing for common complex diseases to help develop future patient education materials and interventions to communicate genomic risk information. We conducted a mixed-methods study with participants from a large primary care clinic. Within four focus groups, we used a semi-structured discussion guide and administered brief pre- and post- discussion quantitative surveys to assess participants’ interest, attitudes, and preferences related to testing and receipt of test results. Prior to the discussion, moderators presented a plain-language explanation of DNA and genetics, defined “SNP”, and highlighted what is known and unknown about the risks associated with testing for SNPs related to colorectal cancer risk. We used the NVIVO 8 software package to analyze the transcripts from the focus group discussions. The majority of participants (75%) were “very” or “somewhat interested” in receiving information from a colon cancer SNP test, even after learning about and discussing the small and still clinically uncertain change in risk conferred by SNPs. Reported interest in testing was related to degree of risk conferred, personal risk factors, family history, possible implications for managing health /disease prevention and curiosity about genetic results. Most people (85%) preferred that genetic information be delivered in person by a healthcare or genetics professional rather than through print materials or a computer. These findings suggest that patients may look to genetic counselors, physicians or other healthcare professionals as gatekeepers of predictive genomic risk information.

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“…Además, se han constatado diferencias según la variable sexo en el inicio del CGO en cuanto a motivación y características psicológicas (4) . -El estar diagnóstico de cáncer (5) , así como estar recibiendo tratamientos de radioterapia, quimioterapia u otros, puede ser determinante de un mayor nivel de malestar durante la realización de las pruebas de evaluación del impacto (6,7) . -El tipo de síndrome hereditario por el que se consulta (mama/ovario, cáncer de colon u otros), si bien los datos actuales muestran que no es predictivo de una mayor o menor adaptación (8) .…”

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