"I don't want to be Henrietta Lacks": diverse patient perspectives on donating biospecimens for precision medicine research.

PURPOSE: To determine whether patients distinguish between biospecimens and electronic health records (EHRs) when considering research participation to inform research protections. METHODS: We conducted 20 focus groups with individuals who identified as African American, Hispanic, Chinese, South Asian, and non-Hispanic white on the collection of biospecimens and EHR data for research. RESULTS: Our study found that many participants did not distinguish between biospecimens and EHR data. However, some participants identified specific concerns about biospecimens. These included the need for special care and respect for biospecimens due to enduring connections between the body and identity; the potential for unacceptable future research, specifically the prospect of human cloning; heightened privacy risks; and the potential for unjust corporate profiteering. Among those who distinguished biospecimens from EHR data, many supported separate consent processes and would limit their own participation to EHR data. CONCLUSION: Considering that the potential misuse of EHR data is as great as, if not greater than, for biospecimens, more research is needed to understand how attitudes differ between biospecimens and EHR data across diverse populations. Such research should explore mechanisms beyond consent that can address diverse values, perspectives, and misconceptions about sources of patient information to build trust in research relationships.

Higher Breast Cancer Risk Among Immigrant Asian American Women Than Among US-Born Asian American Women.

INTRODUCTION: Given rising rates of breast cancer in parts of Asia, immigrant Asian American women in the United States may have higher rates of breast cancer than previously anticipated. This study examined breast cancer risk among Asian American women by nativity and percentage of life lived in the United States, accounting for established breast cancer risk factors. METHODS: We analyzed a breast cancer case-control data set of Asian American women living in the San Francisco Bay Area; this data set included 132 cases of women with breast cancer selected from a Surveillance, Epidemiology, and End Results cancer registry and 438 Asian American women without diagnosed breast cancer matched to cases by age and country of origin. We used logistic regression to compare 3 Asian American groups: US-born, immigrants who lived 50% or more of their life in the United States, and immigrants who lived less than 50% of their life in the United States. RESULTS: In the minimally adjusted and fully adjusted models, both groups of immigrant Asian American women had higher risk of breast cancer than US-born Asian American women. In the fully adjusted model, compared with US-born Asian American women, immigrant Asian American women who lived more than 50% of their life in United States were on average 3 times as likely (odds ratio = 3.00; 95% confidence interval, 1.56-5.75) and immigrants who lived less than 50% of their life in United States were on average 2.46 times as likely (odds ratio = 2.46; 95% confidence interval, 1.21-4.99) to have breast cancer. We found no difference in fully adjusted odds ratios of having breast cancer between the 2 immigrant groups. CONCLUSION: This study provides preliminary evidence that breast cancer risk among immigrant Asian American women may be higher than among their US-born counterparts.

Can Destination Therapy be implemented in children with heart failure? A study of provider perceptions.

DT is an established final therapeutic choice in adult patients with severe heart failure who do not meet criteria for cardiac transplantation. Patients are given VADs, without the prospect of care escalation to transplantation. VADs are now established therapy for children and are currently used as a bridge until transplantation can be performed or heart failure improves. For children who present in severe heart failure but do not meet transplantation criteria, the question has emerged whether DT can be offered. This qualitative study aimed to elicit the perspectives of early adopters of DT at one of the few institutions where DT has been provided for children. Responses were recorded and coded and themes extracted using grounded theory. Interviewees discussed: envisioning of the DT candidate; approach to evaluation for DT; contraindications to choosing DT; and concerns about choosing DT. Providers articulated two frameworks for conceptualizing DT: as a long bridge through resolution of problems that would initially contraindicate transplantation or, alternatively, as a true destination instead of transplantation. True destination, however, may not be the lasting concept for long-term VAD use in children given improvement in prognosis for current medical contraindications and improving VAD technology.

Advancing genomics to improve health equity.

Health equity is the state in which everyone has fair and just opportunities to attain their highest level of health. The field of human genomics has fallen short in increasing health equity, largely because the diversity of the human population has been inadequately reflected among participants of genomics research. This lack of diversity leads to disparities that can have scientific and clinical consequences. Achieving health equity related to genomics will require greater effort in addressing inequities within the field. As part of the commitment of the National Human Genome Research Institute (NHGRI) to advancing health equity, it convened experts in genomics and health equity research to make recommendations and performed a review of current literature to identify the landscape of gaps and opportunities at the interface between human genomics and health equity research. This Perspective describes these findings and examines health equity within the context of human genomics and genomic medicine.

Neighborhood Contexts and Breast Cancer Among Asian American Women.

BACKGROUND: This study examines how neighborhood socioeconomic status (nSES) and ethnic composition are associated with breast cancer risk for Asian American women. METHODS: We linked individual level data from a population-based case-control study of breast cancer among Asian American women with neighborhood level data in the Greater San Francisco Bay Area (cases: n = 118, controls: n = 390). Multivariable logistic regression models examined the association between nSES, ethnic composition, and odds of having breast cancer. RESULTS: Asian American women living in neighborhoods with high nSES and high ethnic composition had the highest odds of breast cancer, compared to those living in neighborhoods with high nSES and low ethnic composition (OR = 0.34, 95% CI [0.16-0.75]) or in neighborhoods with low nSES and high ethnic composition (OR = 0.37, 95% CI [0.17-0.83]). DISCUSSION: Neighborhood socioeconomic and ethnic contexts are associated with breast cancer for Asian American women. We discuss explanations and avenues for future research.

Getting genetic ancestry right for science and society.

We must embrace a multidimensional, continuous view of ancestry and move away from continental ancestry categories.

Secondary uses and the governance of de-identified data: lessons from the human genome diversity panel.

BACKGROUND: Recent changes to regulatory guidance in the US and Europe have complicated oversight of secondary research by rendering most uses of de-identified data exempt from human subjects oversight. To identify the implications of such guidelines for harms to participants and communities, this paper explores the secondary uses of one de-identified DNA sample collection with limited oversight: the Human Genome Diversity Project (HGDP)-Centre d'Etude du Polymorphisme Humain, Fondation Jean Dausset (CEPH) Human Genome Diversity Panel. METHODS: Using a combination of keyword and cited reference search, we identified English-language scientific articles published between 2002 and 2009 that reported analysis of HGDP Diversity Panel samples and/or data. We then reviewed each article to identify the specific research use to which the samples and/or data was applied. Secondary uses were categorized according to the type and kind of research supported by the collection. RESULTS: A wide variety of secondary uses were identified from 148 peer-reviewed articles. While the vast majority of these uses were consistent with the original intent of the collection, a minority of published reports described research whose primary findings could be regarded as controversial, objectionable, or potentially stigmatizing in their interpretation. CONCLUSIONS: We conclude that potential risks to participants and communities cannot be wholly eliminated by anonymization of individual data and suggest that explicit review of proposed secondary uses, by a Data Access Committee or similar internal oversight body with suitable stakeholder representation, should be a required component of the trustworthy governance of any repository of data or specimens.