Biospecimen Research Research Articles

Acceptability of Biospecimen Collection Among Sexual and/or Gender Minority Adults in the United States.

Health studies using biospecimens have an underrepresentation of sexual and/or gender minority (SGM) participants, making it difficult to use data to advance SGM health knowledge. This study examined: 1) the willingness of SGM adults to provide research biospecimens, 2) if SGM groups differ in their willingness, 3) the relationship of demographic characteristics with willingness, and 4) the ideas/concerns of SGM adults toward providing research biospecimens. Data collected in 2018-2019 from The Population Research in Identity and Disparities for Equality Study were analyzed. Regressions examined willingness to provide biospecimens (blood, buccal swab, hair, saliva, and urine) across SGM groups (cisgender sexual minority [SM] men, cisgender SM women, gender-expansive, transfeminine, and transmasculine adults; N = 4,982) and the relationship of demographics with a willingness to provide each biospecimen type. A thematic analysis of an open-ended item elucidated SGM adults' (N = 776) perspective toward providing biospecimens. Most SGM adults were willing to provide biospecimens. Cisgender SM women were less willing to provide some types (blood 54% and urine 63%) than the other groups. Cisgender SM men were most willing to provide all types. Older age, identifying as pansexual, and income >$50,000/year were associated with increased odds of providing biospecimen(s). Gender identity was a significant predictor for all biospecimen types. A gender identity other than cisgender man was associated with 1.6-2.4× lower odds of providing biospecimen(s). Participants expressed concerns about data confidentiality and privacy, data access and misuse, research purposes, and inadvertent disclosure of SGM status. SGM adults' concerns about donating biospecimens can be used to create an affirming and inclusive methodology.

Patients' views on HCC biospecimen research: Understanding the role of race and culture through interviews.

HCC is a leading cause of cancer-related mortality; there are significant racial and ethnic disparities in HCC risk and survival. Our knowledge regarding whether molecular and genetic factors contribute to these observed differences is limited by scarcity of biospecimens, which are especially scarce in minority populations. Because biospecimens are not needed for HCC diagnosis or treatment, patients are less likely to provide biospecimens solely for research purposes. We identified participants, n = 32, from an ongoing prospective cohort study. Using semi-structured interviews, we examined perceptions of providing biospecimens for research to identify factors that motivate and hinder their willingness to donate. Directed content analysis resulted in 6 themes, including reported experiences of (1) support or suspicion in donating biospecimens; (2) desire to help others or themselves; (3) inconvenience, discomfort, and concerns about privacy or recovery as hindrances to donating; (4) recommendations for health care researchers; (5) preferences for biospecimen donation; and (6) the influence of race, culture, and religion in donating biospecimens. Patients reported being least willing to donate specimens that required more invasive procedures and recovery, namely, liver tissue. Patients reported being more likely to donate if the data collection was convenient, resulted from discarded tissue, or was instituted as part of a broad opt-in consent approach, with assurances as to confidentiality and prosocial benefit. Participants expressed mixed views about whether race and culture influence people's willingness to donate biospecimens. Specific recommendations to increase the likelihood of donation include providing patients with educational materials addressing the benefits of donation and the concerns about confidentiality and data usage, making donation convenient, and adopting a broad consent bio-banking policy.

Patient preferences for use of archived biospecimens in Turkey.

e18904 Background: In the era of precision medicine translational research biospecimen collection and data sharing is increasingly needed. Ethical challenges emerge when researchers want to use archived biospecimens without informed consent. We examined Turkish cancer patients' or their family member's preferences about informed consent and the use of excised and stored (tumor) tissues in medical research. Methods: A questionnaire in Turkish language was conducted including the sociodemographic characteristics of the participants and preferences about informed consent and use of tumour tissues in medical research. The study was carried out in 5 tertiary health care institutions with clinical research centers in Turkey. Adult patients diagnosed with solid tumors or their family members who agreed to participate were surveyed by medical doctors between January 2020 and April 2021. Results: 978 people whose age ranged 18 and 82 (Mean = 51.43, SD = 14.41) participated in the study. %50.3 were male, %49.7 were female. %60,2 were cancer patient, %39,8 were family member. %82.4 stated that informed consent must be obtained before participating into clinical trials. %31.5 think that infomed consent can be given by their family members. %32.1 stated that medical records can be reviewed for scientific purposes without their consent. %54.9 know that tumor tissue samples stored in hospitals. %38.9 think that tissue samples belong to hospital. %65.6 agrees that tissue or blood samples may be used for research purposes. %49.8 gives permission for tumour tissues or blood samples to be used for research purposes without informed consent. %40.7 gives permission for genetic tests or DNA analysis without informed consent. According to %57.2 of the participants if tumor tissue is going to be used for research purposes, written consent must be obtained. %62.1 stated that if they give permission for a research their tissues can be used for every research. %65.5 allows tissue samples could be linked to personal medical records with their name and personal information confidential. Top motivations for allowing biospescimens for medical research are help treat other people (%76.3), help advance science (%68.4). %50 allowed their tissues to be used for research after their death, %39.1 wants their family members to give consent. Only %23.5 of participants stated that he or she had sufficient knowledge about personal data protection law in turkey. Conclusions: This study contributes to the data on the aspects of cancer patients about tissue banking. The majority of patients are willing to allow their tissues to be used for research purposes and to allow their medical records to be associated with tissue samples. However, there are also patients who are unsure. Comprehensive informed consent and optional consent models should be developed to improve the acceptability of tissue banking programs, and patients should be informed about the potential benefits of tissue donation.

Evidence-based procedures to improve the reliability of circulating miRNA biomarker assays.

Circulating cell-free microRNAs (cfmiRNA) are an emerging class of biomarkers that have shown great promise in the clinical diagnosis, treatment, and monitoring of several pathological conditions, including cancer.However, validation and clinical implementation of cfmiRNA biomarkers has been hindered by the variability introduced during different or suboptimal specimen collection and handling practices. To address the need forstandardization and evidence-based guidance, the National Cancer Institute (NCI) developed a new Biospecimen Evidenced-Based Practices (BEBP) document, entitled "Cell-free miRNA (cfmiRNA): Blood Collection and Processing". The BEBP, the fourth in the document series, contains step-by-step procedural guidelines on blood collection, processing, storage, extraction, and quality assessment that are tailored specifically for cfmiRNA analysis of plasma and serum. The workflow outlined in the BEBP is based on the available literature and recommendations of an expert panel. The BEBP contains the level of detail required for development of evidence-based standard operating procedures (SOPs) as well as the flexibility needed to accomodate (i)discovery- and inquiry-based studies and (ii) the different constraints faced by research labs, industry, clinical and academic institutions to foster widespread implementation. Guidance from the expert panel also included recommendations on study design, validating changes in workflow, and suggested quality thresholds to delineate meaningful changes in cfmiRNA levels. The NCI cfmiRNA: Blood Collection and Processing BEBP is available here as supplementary information as well as through the NCI Biorepositories and Biospecimen Research Branch (BBRB) (https://biospecimens.cancer.gov/resources/bebp.asp).

Abstract 5534: “Simply ask and explain”: perspectives from Black patients with lung cancer on strategies to address racial disparities in biospecimen research participation

Abstract Background: Participation of racially diverse populations in research is necessary to advance cancer care. However, representation of Black individuals in biospecimen cancer research remains low and requires being asked to engage in research. We sought to understand the experiences, beliefs, and knowledge about biospecimen research among Black patients with lung cancer. Methods: Semi-structured interviews with a purposive sample of 15 Black patients diagnosed with lung cancer were conducted between January and August 2022 at a large academic center in North Carolina. Interviews were digitally recorded and transcribed and analyzed using thematic analysis. Results: Themes related to who should initiate discussions about biospecimen donation, what should be considered before donation, and communication strategies to increase participation of Black patients with cancer in biospecimen research emerged from the interviews. Most participants indicated that discussions about biospecimen donation should be initiated by trusted and knowledgeable members of the medical team and most expressed trusting their providers. Some also expressed the importance of including family members in discussions about medical and research decisions. Some participants felt it was important to consider if donating specimens would cause pain or would require additional procedures. Recommended communication strategies to facilitate participation included use of simple and easily understood language in addition to messaging related to how biospecimen donation would benefit others. Participants also felt cultural humility, respect, and empathy during research recruitment would help enhance enrollment of Black participants in biospecimen research. Of note, all participants reported never being asked to participate in biospecimen research and felt that underrepresentation of Black participants may be due to not being asked. Conclusion: Black participants in this study have not been asked to participate in biospecimen research but are willing to be engaged in conversations about research from their medical team. Simply being asked, trusting their medical provider, cultural humility, and framing the message on how the research will benefit others are some of the recommended strategies to enhance research participation among Black patients. Future research should incorporate these strategies into an intervention to assess the impact on recruiting Black individuals in biomedical research. Sponsored by the Lung Cancer Research Foundation Research Grant on Disparities in Lung Cancer Citation Format: Jeenn A. Barreiro-Rosa, Oluwatumilara Akeke, Annabella Opoku, Alison Hilton, Jessica Carda-Auten, Randall Teal, Aaron Carpenter, Hayley N. Morris, Lauren Matthews, Ashley Rankin Collins, Marjory Charlot. “Simply ask and explain”: perspectives from Black patients with lung cancer on strategies to address racial disparities in biospecimen research participation. [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2023; Part 1 (Regular and Invited Abstracts); 2023 Apr 14-19; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2023;83(7_Suppl):Abstract nr 5534.

Abstract 109: Multi-modal single-cell analysis of immunotherapy-experienced cutaneous and mucosal melanoma

Abstract Immune checkpoint blockade (ICB) targeting CTLA-4 or the PD1/PD-L1 axis have become a standard of care therapy for most patients with metastatic melanoma. However, for patients with resistance to front-line ICB, especially those with BRAFWT tumors who received combination therapy, subsequent therapeutic options remain limited. Thus, understanding how ICB alters the tumor ecosystem, and thereby may create new vulnerabilities, is key to understanding effective therapies for ICB-experienced patients. Here, enabled through innovations in biospecimen research, we performed multi-modal single-cell RNA, T-cell receptor and single-cell spatial transcriptomics, coupled with whole-genome sequencing (WGS) of 42 melanoma patient biopsies. This cohort includes 7 patients with paired before- and on-/post-treatment biopsies, and spanned treatment-naïve metastatic cutaneous melanoma patients (n=10), on-ICB (aPD-1, n=7; aCTLA-4, n=1; combination therapy, n=2; total, n=10), and post-ICB (aPD-1, n=10; aCTLA-4, n=5; combination therapy, n=6; L19IL2+L16TNF, n=1; total, n=22). This cohort further includes 6 rare samples of mucosal melanoma (oral, n=4; rectal, n=2). In total, we profiled >320,000 transcriptomes, including >240,000 malignant and ~80,000 non-malignant cells, and 14,714 matched TCRs. We used a series of novel analytical approaches, including KINOMO to mitigate biases introduced by differences in gene dosage, and novel artificial intelligence frameworks, to discover differentially expressed genes and gene programs associated with treatment exposures and treatment sites. Compared to untreated specimens, there is an increase in antigen presentation (Wilcoxon rank-sum test, P=0) and reduction in lineage expression (Wilcoxon rank-sum test, P=0) in ICB-experienced tumors. Furthermore, mucosal melanomas harbor unique gene regulatory networks characterized by expression of immune evasive programs (e.g. SOX4; MAST, P=0) and exhibit lower expression of oxidative phosphorylation (Wilcoxon rank-sum test, P=0). Together, these data indicate a high degree of cellular adaption and plasticity. Through integration of single-cell, spatial and WGS, we further identify cancer clones defined by their aneuploidy patterns that confer geographically restricted immune evasion with a distinctly cold tumor microenvironment (TME), despite global T cell activation and clonal expansion. This suggest significant intralesional heterogeneity with respect to response to ICB, which may be explained by cancer cell-intrinsic factors rather than insufficient T cell responses to ICB. This work provides initial insights into spatio-temporal changes induced by ICB in cancer cells and the TME in a relatively large patient cohort. Our results indicate that functional and spatial variability exists in these tumors and may provide avenues for novel therapeutic development in ICB-experienced patients. Citation Format: Jana Biermann, Yiping Wang, Linyue Fan, Patricia Ho, Amit D. Amin, Johannes C. Melms, Somnath Tagore, Kevin Hoffer-Hawlik, Parin Shah, Neha Shaikh, Priyanka Ramaradj, Mingxuan Zhang, Antoni Ribas, Caroline Robert, Elham Azizi, Benjamin Izar. Multi-modal single-cell analysis of immunotherapy-experienced cutaneous and mucosal melanoma [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2023; Part 1 (Regular and Invited Abstracts); 2023 Apr 14-19; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2023;83(7_Suppl):Abstract nr 109.

Abstract 5535: Research team perspectives on engaging Black patients with cancer in biospecimen research

Abstract Background: Representation of Black individuals with cancer in biospecimen research remains disproportionately low compared to white counterparts. Clinicians and research staff are responsible for informing, inviting, and consenting patients to participate in such research. We sought to understand clinician and research staff perspectives on engaging Black patients in biospecimen research. Methods: We conducted 10 in-depth interviews with purposively sampled clinicians and research staff at a large academic cancer center in North Carolina between January and August 2022. Participants underwent semi-structured interviews (duration 45-60 minutes) and were asked open ended questions about biospecimen research barriers in general, barriers specific to people who identify as Black or African American, and considerations when discussing biospecimen research with Black patients. Interview transcripts were analyzed using thematic analysis. Results: Perceived patient related barriers to biospecimen donation included pain from sample collection, invasive sample collection, lack of to time or transportation, medical research mistrust, health literacy, and limited knowledge of opportunities for involvement. Many felt that these barriers were faced by both Black and non-Black patients. However, some felt for Black patients, these barriers existed within the context of historical injustices in medicine, current bias in health care and socioeconomic inequities, while others felt socioeconomic status not race was more of a concern. Clinician and research staff identified barriers to discussing biospecimen research included lack of time given busy clinical practice and concern with patients’ physical and emotional state. Patients’ race was not considered a barrier. When asked about considerations for discussing biospecimen research specifically with Black patients, participants felt time to establish rapport and trust, readiness to discuss historical injustices in biomedical research, reminding participants research is voluntary, and having in person discussions were important. Few felt that patient race was not relevant to these discussions. Conclusion: Some clinicians and research staff acknowledge that historical injustices and current racial bias in biomedical research and health care contribute to low representation of Black individuals in biospecimen research, while others did not. Further research is needed to assess whether race and/or racism agnostic approaches versus acknowledgement of structural racism’s influence on biomedical research and health care have an impact on fair representation of Black individuals in biospecimen research. Sponsored by the Lung Cancer Research Foundation Research Grant on Disparities in Lung Cancer Citation Format: Aaron Carpenter, Hayley N. Morris, Annabella Opoku, Alison Hilton, Jessica Carda-Auten, Randall Teal, Jeenn A. Barreiro-Rosado, Lauren Matthews, Oluwatumilara Akeke, Ashley Rankin Collins, Marjory Charlot. Research team perspectives on engaging Black patients with cancer in biospecimen research. [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2023; Part 1 (Regular and Invited Abstracts); 2023 Apr 14-19; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2023;83(7_Suppl):Abstract nr 5535.

Recruiting African American Prostate Cancer Survivors for a Population-based Biobank Study.

Prostate cancer affects African American men disproportionately compared with men of other racial/ethnic groups. To identify biological bases for this health disparity, we sought to create a state-wide biobank of African American prostate cancer survivors in Florida. African American men diagnosed with prostate cancer between 2013 and 2017 and living in Florida at diagnosis were identified through the State of Florida's cancer registry. Individuals were approached via mail and telephone, assessed for eligibility, and asked for informed consent. χ2 and t tests were conducted to identify differences between eligible and reachable individuals (i.e., had valid contact information) versus consented participants. Of the 5,960 eligible and reachable individuals, 3,904 were eligible and contacted at least once, and 578 consented [overall consent rate = 10% (578/5,960); adjusted consent rate = 15% (578/3,904)]. Statistically significant (Ps < 0.05) but small differences in demographic and clinical variables were observed. Consented participants were less likely to be older than 64 (35% vs. 41%) and less likely to have received radiotherapy (36% vs. 41%) and hormone therapy (16% vs. 21%), but more likely to have regional prostate cancer (13% vs. 11%) and have undergone surgery (44% vs. 39%). Consented participants did not differ from reachable individuals on other demographic and clinical factors (Ps > 0.05). Recruiting African American prostate cancer survivors to biobanking research through a cancer registry is feasible. However, the consent rate was low, and existing challenges limit consent and participation. Strategies for overcoming barriers to informed consent and increasing participation in biospecimen research are needed to address cancer disparities.

Researchers' Perspectives Regarding Ethical Issues of Biobank Research in the Arab Region.

Background: The recent expansion of genomic biobank research in the Arab region in the Middle East North Africa has raised complex ethical and regulatory issues. However, there is a lack of studies regarding the views of Arab researchers involved in such research. We aimed to assess the perceptions and attitudes of Arab researchers regarding these issues in biobank research. Methods: We developed a questionnaire to assess the perceptions and attitudes regarding genetic research of researchers from Egypt, Sudan, Morocco, and Jordan. The questionnaire requested demographic data, perceptions, and attitudes regarding the collection, storage, and use of biospecimens and data, the use of broad consent, data security, data sharing, and community engagement. We used multiple linear regressions to identify predictors of perceptions and attitudes. Results: We recruited 383 researchers. Researchers favored equally the use of broad and tiered consent (44.1% and 39.1%, respectively). Most respondents agreed with the importance of confidentiality protections to ensure data security (91.8%). However, lower percentages were seen regarding the importance of community engagement (64.5%), data sharing with national colleagues and international partners (60.9% and 41.1%, respectively), and biospecimen sharing with national colleagues and international partners (59.9% and 36.2%, respectively). Investigators were evenly split on whether the return of individual research results should depend on the availability or not of a medical intervention that can be offered to address the genetic anomaly (47.5% and 46.4%, respectively). Predictors of attitudes toward biospecimen research included serving on Research Ethics Committees, prior research ethics training, and affiliation with nonacademic institutions. Conclusions: We recommend further exploratory research with researchers regarding the importance of community engagement and to address their concerns about data sharing, with researchers within and outside their countries.

Assessment of willingness of Saudi public to participate in a dental biorepository for research purposes

BackgroundBiobanks/biorepositories are created to collect biospecimens for therapeutic and research uses. The success of the banking concept depends predominantly on the public's understanding and desire to contribute, which triggers several social, cultural, and ethical implications. The aim of this study is (1) to assess the willingness among adults attending outpatient clinics at King Abdulaziz Medical City to donate dental tissue samples to a biorepository for research purposes, (2) to identify the significant predictors for positive attitudes and willingness to donate dental bio-specimens.MethodologyThis is a cross-sectional study that targeted 401 adult outpatients attending King Abdulaziz Medical City in Riyadh, Saudi Arabia. The questionnaire focused on three main parts: demographic and personal characteristics, and previous experience regarding biorepositories (part I), knowledge about dental biorepositories (part II), and willingness and attitudes towards donating dental biospecimens (part III). Data collected were analyzed using the statistical program SAS (version 9.4) with 0.05 level of significance to determine the willingness of donating tissue to biobanks for biomedical research purposes, measure knowledge and attitude about biobanking, find the association between the assessed variables, and identify significant predictors of positive attitude to donate dental biospecimens.Results66% of the participants were willing to donate dental biospecimens, however only 33.9% showed good level of knowledge. Despite the notable lack of knowledge, 54% respondents had favorable attitude towards donating dental biospecimens, and only 17% were negative while the remaining 29% were neutral. Previous involvement in medical research, previous blood testing or donation, female gender, higher education level, employment in a medical facility, and higher monthly income variables were found to be significantly associated with higher willingness to donate dental biospecimens.ConclusionAlthough the majority of the participants exhibited lack of knowledge about dental biorepositories, they showed high willingness and good attitude towards donating dental biospecimens. This favorable attitude is, in turn, encouraging for the future establishment of dental biorepositories in Saudi Arabia. Six factors were significantly associated with the willingness to donate dental biospecimens, out of these, female gender, previous blood testing/donation, previous involvement in medical research were found to be strong predictors.

Recruitment and Feasibility of Hair Cortisol Collection in a Sample of Ethnically and Sexually Diverse, Low-Income Adults: A Qualitative Community-Partnered Participatory Research Study.

The current study describes how a community-partnered participatory research (CPPR) model was used to enhance hair cortisol research engagement among low-income adults of diverse ethnicities and sexual and gender identities. Participants' reported motivations and concerns surrounding providing a hair sample are also described. Participants from a larger longitudinal study were invited to provide a hair sample and/or complete acceptability interviews. Results indicated that 71% of all persons (N=133) contacted participated in the current study, of whom 82% provided hair samples. Several themes emerged from the interviews indicating that participants were motivated to provide a hair sample due to internal and external factors; however, concerns about mistrust of research remained. Thus, collecting biospecimens in research with underserved groups requires careful consideration of benefits and risks to the individual and their communities. Our results provide guidelines for engaging low-income racially/ethnically and sexually diverse community members in biospecimen research to understand stress-health relationships.

Abstract B093: A mixed methods study of racial ethnic minority enrollment in biospecimen research

Abstract Background: Racial and ethnic minorities are underrepresented in cancer biospecimen research. Advancements in precision medicine without inclusion of minority groups is likely to exacerbate disparities in cancer care and treatment outcomes. There is a paucity of literature comparing enrollment into cancer biobanks by race, and little is known about specific reasons why patients decline participation. Methods: Between January and December 2021, eligible participants for biospecimen research studies were surveyed for reasons for consenting to or declining participation. Consent rates for participation were compared by gender, race, and age. Open responses were reviewed for themes. Results: Survey responses from 67 participants were analyzed. Twenty-four participants (35.8%) self-identified as White and 43 (64.2%) as non-White. Forty-five (67.2%) respondents reported agreeing to biospecimen research while 21 (31.3%) reported declining. White participants reported significantly higher participation rates compared to non-White participants (87.5% vs. 55.8%, p = 0.012). The majority of respondents (65.7%) reported learning about biospecimen research studies from a research assistant, and 12 participants (18%) reported that a provider recommended participation. Reasons for declining included “going through a lot”, “I do not want to make additional visits for the study” and “my doctor did not recommend it.” Discussion: Our findings suggest that most patients will consent to biospecimen research, however racial minorities are more likely to decline. Qualitative responses suggest that increased provider engagement and use of low-literacy and bilingual education materials may improve participation. Citation Format: Tina Y. Zhang, Anne K. Buck, David Li, Adrian Ilinski, Nina Modanlo, Kiana Mahdaviani, Naomi Y. Ko. A mixed methods study of racial ethnic minority enrollment in biospecimen research [abstract]. In: Proceedings of the 15th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2022 Sep 16-19; Philadelphia, PA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2022;31(1 Suppl):Abstract nr B093.

Selling Clinical Biospecimens: Guidance for Researchers and Private Industry.

The recently revised Common Rule requires that donors of biospecimens for research be informed if their specimens might be used for commercial profit. The Common Rule, however, does not apply to sharing or selling de-identified biospecimens that are "leftover" from clinical uses. As a result, many medical researchers remain uncertain of their legal and ethical obligations when a commercial entity expresses interest in these specimens.

Protocol for Biospecimen Collection and Analysis Within the BACPAC Research Program.

The Biospecimen Collection and Processing Working Group of the National Institutes of Health (NIH) HEAL Initiative BACPAC Research Program was charged with identifying molecular biomarkers of interest to chronic low back pain (cLBP). Having identified biomarkers of interest, the Working Group worked with the New York University Grossman School of Medicine, Center for Biospecimen Research and Development-funded by the Early Phase Pain Investigation Clinical Network Data Coordinating Center-to harmonize consortium-wide and site-specific efforts for biospecimen collection and analysis. Biospecimen collected are saliva, blood (whole, plasma, serum), urine, stool, and spine tissue (paraspinal muscle, ligamentum flavum, vertebral bone, facet cartilage, disc endplate, annulus fibrosus, or nucleus pulposus). The omics data acquisition and analyses derived from the biospecimen include genomics and epigenetics from DNA, proteomics from protein, transcriptomics from RNA, and microbiomics from 16S rRNA. These analyses contribute to the overarching goal of BACPAC to phenotype cLBP and will guide future efforts for precision medicine treatment.

Reported Interest in Notification Regarding Use of Health Information and Biospecimens

This study describes reported interest in notification regarding use of personal health information and biospecimens for research and preference-associated factors among a sample of the US population in 2019.

Abstract 2791: Integrating biospecimen science approaches into clinical assay development-PAR 22-049

Abstract Introduction to the problem: Biospecimens are the essential starting materials for the biomarker assays that enable precision medicine. Biospecimen preanalytical factors can directly influence molecular results from assays conducted for basic research, biomarker discovery, and biomarker validation, and can also influence the development of validated clinical assays. The U.S. National Cancer Institute (NCI) Biorepositories and Biospecimen Research Branch supports extramural research as a part of this FOA to investigate and mitigate preanalytical challenges facing clinical assay development and analytical validation in a variety of biospecimen types. The overall goal of this initiative is to expedite biomarker clinical assay development through evidence based standardization of biospecimen handling practices. The work is centered on emerging and clinically relevant biomarker assays conducted on a variety of molecular platforms. Proposed solution and methods: Researchers may investigate tissue and fluid biospecimens including core biopsies, fine needle aspirates, tissue exudates, blood, urine, saliva, breast milk, feces, sweat, CSF, and pleural and esophageal aspirates. Investigator designed experiments explore how different biospecimen preanalytical conditions affect biomarkers in a clinical setting. To date, ten grants have been funded. The grants address important areas in biospecimen science in both liquid and solid biopsy biopsies in breast cancer, glioblastomas, lung cancer, bladder cancer, prostate cancer, cutaneous and peripheral T cell lymphoma. Investigators can collaborate with each other and with the NCI, FDA and NIST through the U01 funding mechanism. Conclusions: The results from this research program will elucidate how analytical quantification of clinically relevant biomarkers is affected by patient context factors, variation in biospecimen collection, processing, and storage procedures, and how such effects can be mitigated to improve the development, performance and accuracy of clinical biomarker assays utilized in clinical research and patient care. The receipt dates for this program, PAR 22 049 in 2022, are January 11, 2022, June 7th, 2022, and September 13th, 2022. Citation Format: Lokesh Agrawal, Abhi Rao, Ping Guan, Miguel Ossandon, Helen Moore. Integrating biospecimen science approaches into clinical assay development-PAR 22-049 [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2022; 2022 Apr 8-13. Philadelphia (PA): AACR; Cancer Res 2022;82(12_Suppl):Abstract nr 2791.

Prospective Real-World Gynaecological Cancer Clinical Registry with Associated Biospecimens: A Collaborative Model to Promote Translational Research between GEICO and the Spanish Biobank Network.

Simple SummaryThis is a collaborative approach between two multicentre structures, the Spanish Group of Ovarian Cancer Research (GEICO) and the Spanish Biobank Network (RNBB), for collecting high-quality clinical data and associated biospecimens from gynaecological patients in the context of a virtual clinical registry (VCR). The model described herein defines the mode of operation of this initiative and represents a win-win example between multicentre structures that will contribute to the success of translational research in gynaecological cancer. As of December 2021, 30 active sites have recruited a total of 655 patients in the GEICO VCR, distributed in the following cohorts: Ovarian Cancer (377), Endometrial Cancer (206), Cervical Cancer (67), and Rare Tumours (5). The main type of associated biospecimens are formalin-fixed and paraffin-embedded tissue, plasma, serum, and buffy-coat.Patient registries linked to biorepositories constitute a valuable asset for clinical and translational research in oncology. The Spanish Group of Ovarian Cancer Research (GEICO), in collaboration with the Spanish Biobank Network (RNBB), has developed a multicentre, multistakeholder, prospective virtual clinical registry (VCR) associated with biobanks for the collection of real-world data and biological samples of gynaecological cancer patients. This collaborative project aims to promote research by providing broad access to high-quality clinical data and biospecimens for future research according to the needs of investigators and to increase diagnostic and therapeutic opportunities for gynaecological cancer patients in Spain. The VCR will include the participation of more than 60 Spanish hospitals entering relevant clinical information in harmonised electronic case report forms (eCRFs) in four different cohorts: ovarian, endometrial, cervical, and rare gynaecological cancers (gestational trophoblastic disease). Initial data for the cases included till December 2021 are presented. The model described herein establishes a real-world win-win collaboration between multicentre structures, promoted and supported by GEICO, that will contribute to the success of translational research in gynaecological cancer.

Associations of the MUC5B promoter variant with timing of interstitial lung disease and rheumatoid arthritis onset.

To investigate the associations of the common MUC5B promoter variant with timing of RA-associated interstitial lung disease (RA-ILD) and RA onset. We identified patients with RA meeting 2010 ACR/EULAR criteria and available genotype information in the Mass General Brigham Biobank, a multihospital biospecimen and clinical data collection research study. We determined RA-ILD presence by reviewing all RA patients who had CT imaging, lung biopsy or autopsy results. We determined the dates of RA and RA-ILD diagnoses by manual records review. We examined the associations of the MUC5B promoter variant (G>T at rs35705950) with RA-ILD, RA-ILD occurring before or within 2 years of RA diagnosis and RA diagnosis at age >55 years. We used multivariable logistic regression to estimate odds ratios (ORs) for each outcome by MUC5B promoter variant status, adjusting for potential confounders including genetic ancestry and smoking. We identified 1005 RA patients with available genotype data for rs35705950 (mean age 45 years, 79% female, 81% European ancestry). The MUC5B promoter variant was present in 155 (15.4%) and was associated with RA-ILD [multivariable OR 3.34 (95% CI 1.97, 5.60)], RA-ILD before or within 2 years of RA diagnosis [OR 4.01 (95% CI 1.78, 8.80)] and RA onset after age 55 years [OR 1.52 (95% CI 1.08, 2.12)]. The common MUC5B promoter variant was associated with RA-ILD onset earlier in the RA disease course and older age of RA onset. These findings suggest that the MUC5B promoter variant may impact RA-ILD risk early in the RA disease course, particularly in patients with older-onset RA.

Ethical, Legal, and Policy Issues Surrounding Biospecimen Research Conducted or Supported in the USA.

Rapid and dramatic advances in molecular sequencing technology, as well as medical discoveries from genome-wide association and other precision medicine studies, have highlighted the longstanding ethical and legal challenges research biobanks consistently face. Whose authority is needed to conduct research with excised tissue, and how that authority may be exercised with respect and transparency, are central questions. This review article explores how scholars have addressed ethical and legal controversies such as the proper breadth and scope of consent for collection and future research use of biological specimens and data, the importance of disclosing individual research results and secondary findings, and collecting cadaver tissue from deceased persons. This article focuses on the legal and regulatory environment for conducting and/or supporting biospecimen research in the United States of America. It takes the position that proper biobank governance strategies, which ensure accountability and model respect toward biospecimen contributors, as well as transparency in communications between participants and researchers, reduce the likelihood of downstream legal disputes.

The HealthStreet Cancer Survivor Cohort: a Community Registry for Cancer Research.

This report describes a cancer survivor cohort from a community engagement program and compares characteristics and willingness to participate in health research between the cancer survivors and non-cancer community members. Among 11,857 members enrolled in HealthStreet at the University of Florida (10/2011-03/2020), 991 cancer survivors were identified and 1:1 matched to control members without cancer on sex, age, and zip code. Demographics, body weight, height, social determinants of health, history of cancer, and willingness to participate in research were recorded by Community Health Workers as a part of the baseline Health Needs Assessment. Among the cancer survivors, 71.6% were female and 19.2% lived in rural areas with a mean age of 56.7years in females and 60.8years in males. At baseline, 44.7% received a cancer diagnosis within 5years, while 15.8%, more than 20years. Cancer survivors (vs. matched non-cancer controls) were less likely to be Black (31.1% vs. 63.6%) but more likely to be divorced, separated, or widowed (49.5% vs. 41.2%), be normal/underweight (34.0% vs. 25.6%) and have health insurance (80.0% vs. 68.6%; all p < 0.05). Cancer survivors versus matched controls reported higher rates of ever being in a health research study (32.4% vs. 24.9%) and interest in participating in studies ranging from minimal risk to greater-than-minimal risk. Cancer survivors from this community engagement program agnostic to cancer types and treatment are diverse in geography, race, and social determinants of health and can be a valuable resource for observational, interventional, and biospecimen research in cancer survivorship.