Knowledge regarding and patterns of genetic testing in patients newly diagnosed with breast cancer participating in the iCanDecide trial

BackgroundThe current study reports rates of knowledge regarding the probability of a BRCA1 and/or S pathogenic variant and genetic testing in patients with breast cancer, collected as part of a randomized controlled trial of a tailored, comprehensive, and interactive decision tool (iCanDecide).MethodsA total of 537 patients newly diagnosed with early‐stage breast cancer were enrolled at the time of their first visit in 22 surgical practices, and were surveyed 5 weeks (496 patients; Response Rate [RR], 92%) after enrollment after treatment decision making. Primary outcomes included knowledge regarding the probability of carrying a BRCA1 and/or BRCA2 pathogenic variant and genetic testing after diagnosis.ResultsOverall knowledge regarding the probability of having a BRCA1 and/or BRCA2 pathogenic variant was low (29.8%). Significantly more patients in the intervention group compared with the control group had knowledge regarding the probability of a BRCA1 and/or BRCA2 pathogenic variant (35.8% vs 24.4%; P <.006). In multivariable logistic regression, the intervention arm remained significantly associated with knowledge regarding the probability of having a BRCA1 and/or BRCA2 pathogenic variant (odds ratio, 1.79; 95% confidence interval, 1.18‐2.70).ConclusionsThe results of the current study suggest that although knowledge concerning the probability of having a BRCA1 and/or BRCA2 pathogenic variant remains low in this patient population, the interactive decision tool improved rates compared with a static Web site. As interest in genetic testing continues to rise, so will the need to integrate tools into the treatment decision process to improve informed decision making.As interest in genetic testing increases, so will the need to integrate tools into the treatment decision process. Results from the current study suggest that although knowledge regarding the probability of a BRCA1 and/or BRCA2 pathogenic variant remains low in this patient population, the interactive decision tool improved rates compared with a static Web site.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/146553/1/cncr31731.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/146553/2/cncr31731_am.pd

Next‐generation sequencing in precision oncology: Patient understanding and expectations

BackgroundImplementation of precision oncology interventions poses several challenges to informed consent and patient education. This study assessed cancer patients’ understanding, expectations, and outcomes regarding participation in research examining the impact of matched tumor and germline sequencing on their clinical care.MethodsA total of 297 patients (mean age: 59 years; 50% female; 96% white) with refractory, metastatic cancer were surveyed, including 217 who completed surveys both before and after undergoing integrated whole exome and transcriptome sequencing as part of a larger clinical research study.ResultsAt baseline, the vast majority of patients expected to receive several potential direct benefits from study participation, including written reports of sequencing findings (88%), greater understanding of the causes of their cancer (74%), and participation in clinical trials for which sequencing results would make them eligible (84%). In most cases, these benefits were not realized by study completion. Despite explanations from study personnel to the contrary, most participants (67%‐76%) presumed that incidental germline sequencing findings relevant to noncancerous health conditions (eg, diabetes) would automatically be disclosed to them. Patients reported low levels of concern about study risks at baseline and low levels of regret about study participation at follow‐up.ConclusionsFindings suggest that cancer patients participating in precision oncology intervention research have largely unfulfilled expectations of direct benefits related to their study participation. Increased focus on patient education to supplement the informed consent process may help manage patients’ expectations regarding the extent and likelihood of benefits received as a result of undergoing genomic sequencing.This study assessed cancer patients’ understanding and expectations regarding participation in research examining the impact of matched tumor and germline sequencing on their clinical care. Findings suggest that cancer patients participating in precision oncology intervention research have largely unfulfilled expectations of direct benefits related to their study participation. Increased focus on patient education to supplement the informed consent process may help manage patients’ expectations regarding the extent and likelihood of benefits received as a result of undergoing genomic sequencing.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/147745/1/cam41947.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/147745/2/cam41947_am.pd

Interpretations of the Term “Actionable” when Discussing Genetic Test Results: What you Mean Is Not What I Heard

In genomic medicine, the familiarity and inexactness of the term “actionable” can lead to multiple interpretations and mistaken beliefs about realistic treatment options. As part of a larger study focusing on public attitudes toward policies for the return of secondary genomic results, we looked at how members of the lay public interpret the term “medically actionable” in the context of genetic testing. We also surveyed a convenience sample of oncologists as part of a separate study and asked them to define the term “medically actionable.” After being provided with a definition of the term, 21 out of 60 (35%) layperson respondents wrote an additional action not specified in the provided definition (12 mentioned “cure” and 9 mentioned environment or behavioral change) and 17 (28%) indicated “something can be done” with no action specified. In contrast, 52 surveyed oncologists did not mention environment, behavioral change, or cure. Based on our findings, we propose that rather than using the term “actionable” alone, providers should also say “what they mean” to reduce miscommunication and confusion that could negatively impact medical decision‐making. Lastly, to guide clinicians during patient‐ provider discussion about genetic test results, we provide examples of phrasing to facilitate clearer communication and understanding of the term “actionable.”Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/149289/1/jgc41064.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/149289/2/jgc41064_am.pd

Blurred Boundaries: Gender and Work-Family Interference in Cross-National Context

Although well theorized at the individual level, previous research has neglected the role of national context in shaping overall levels of nonwork-work and work-nonwork interference. This study fills this gap by examining how a national context of gender empowerment affects the likelihood of experiencing nonwork-work and work-nonwork interference at the individual and national levels. Controlling for individual-level differences in the distribution of job demands and resources, results from our multilevel models indicate that women's empowerment has significant net gender and parenthood effects on nonwork-work interference. By contrast, gender empowerment equally structures work-nonwork interference for these groups. Our results highlight the need to investigate interference bidirectionally and in a multilevel context. © The Author(s) 2013

Effect of Public Deliberation on Attitudes toward Return of Secondary Results in Genomic Sequencing

The increased use of genomic sequencing in clinical diagnostics and therapeutics makes imperative the development of guidelines and policies about how to handle secondary findings. For reasons both practical and ethical, the creation of these guidelines must take into consideration the informed opinions of the lay public. As part of a larger Clinical Sequencing Exploratory Research (CSER) consortium project, we organized a deliberative democracy (DD) session that engaged 66 participants in dialogue about the benefits and risks associated with the return of secondary findings from clinical genomic sequencing. Participants were educated about the scientific and ethical aspects of the disclosure of secondary findings by experts in medical genetics and bioethics, and then engaged in facilitated discussion of policy options for the disclosure of three types of secondary findings: 1) medically actionable results; 2) adult onset disorders found in children; and 3) carrier status. Participants’ opinions were collected via surveys administered one month before, immediately following, and one month after the DD session. Post DD session, participants were significantly more willing to support policies that do not allow access to secondary findings related to adult onset conditions in children (Χ2 (2, N = 62) = 13.300, p = 0.001) or carrier status (Χ2 (2, N = 60) = 11.375, p = 0.003). After one month, the level of support for the policy denying access to secondary findings regarding adult‐onset conditions remained significantly higher than the pre‐DD level, although less than immediately post‐DD (Χ2 (1, N = 60) = 2.465, p = 0.041). Our findings suggest that education and deliberation enhance public appreciation of the scientific and ethical complexities of genome sequencing.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/146892/1/jgc40122-sup-0006.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/146892/2/jgc40122.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/146892/3/jgc40122-sup-0005.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/146892/4/jgc40122-sup-0007.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/146892/5/jgc40122-sup-0002.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/146892/6/jgc40122-sup-0001.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/146892/7/jgc40122-sup-0003.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/146892/8/jgc40122-sup-0004.pd

Human papillomavirus is not associated with colorectal cancer in a large international study

Recent publications have reported an association between colon cancer and human papillomaviruses (HPV), suggesting that HPV infection of the colonic mucosa may contribute to the development of colorectal cancer. The GP5+/GP6+ PCR reverse line blot method was used for detection of 37 types of human papillomavirus (HPV) in DNA from paraffin-embedded or frozen tissues from patients with colorectal cancer (n = 279) and normal adjacent tissue (n = 30) in three different study populations, including samples from the United States (n = 73), Israel (n = 106) and Spain (n = 100). Additionally, SPF10 PCR was run on all samples (n = 279) and the Innogenetics INNO-LiPA assay was performed on a subset of samples (n = 15). All samples were negative for all types of HPV using both the GP5+/GP6+ PCR reverse line blot method and the SPF10 INNO-LiPA method. We conclude that HPV types associated with malignant transformation do not meaningfully contribute to adenocarcinoma of the colon

Eight Americas: Investigating Mortality Disparities across Races, Counties, and Race-Counties in the United States

BACKGROUND: The gap between the highest and lowest life expectancies for race-county combinations in the United States is over 35 y. We divided the race-county combinations of the US population into eight distinct groups, referred to as the “eight Americas,” to explore the causes of the disparities that can inform specific public health intervention policies and programs. METHODS AND FINDINGS: The eight Americas were defined based on race, location of the county of residence, population density, race-specific county-level per capita income, and cumulative homicide rate. Data sources for population and mortality figures were the Bureau of the Census and the National Center for Health Statistics. We estimated life expectancy, the risk of mortality from specific diseases, health insurance, and health-care utilization for the eight Americas. The life expectancy gap between the 3.4 million high-risk urban black males and the 5.6 million Asian females was 20.7 y in 2001. Within the sexes, the life expectancy gap between the best-off and the worst-off groups was 15.4 y for males (Asians versus high-risk urban blacks) and 12.8 y for females (Asians versus low-income southern rural blacks). Mortality disparities among the eight Americas were largest for young (15–44 y) and middle-aged (45–59 y) adults, especially for men. The disparities were caused primarily by a number of chronic diseases and injuries with well-established risk factors. Between 1982 and 2001, the ordering of life expectancy among the eight Americas and the absolute difference between the advantaged and disadvantaged groups remained largely unchanged. Self-reported health plan coverage was lowest for western Native Americans and low-income southern rural blacks. Crude self-reported health-care utilization, however, was slightly higher for the more disadvantaged populations. CONCLUSIONS: Disparities in mortality across the eight Americas, each consisting of millions or tens of millions of Americans, are enormous by all international standards. The observed disparities in life expectancy cannot be explained by race, income, or basic health-care access and utilization alone. Because policies aimed at reducing fundamental socioeconomic inequalities are currently practically absent in the US, health disparities will have to be at least partly addressed through public health strategies that reduce risk factors for chronic diseases and injuries

Intergenerational family caregiving in welfare policy context

Definition Intergenerational family caregiving refers to exchanges up and down family lines aimed at nurturing the needs of others. Caregiving is more than a task; it involves emotional and relationship work