Returning actionable genetic results to participants in the biobank at the Colorado Center for Personalized Medicine and UCHealth.

Purpose: To describe our process for returning genetic results to participants in the Colorado Center for Personalized Medicine biobank.

Methods: Enrollment in the biobank is open to all adult UCHealth patients. Participants who provided a sample that was genotyped and signed the proper consent were eligible to receive results.

Primary care providers' preferences for the communication and management of actionable genomic findings from a research biobank.

Purpose: Little is known about non-genetics health care specialists' attitudes toward the return and utilization of actionable genomic results from a research biobank. We surveyed primary care providers (PCPs) to explore their perspectives on these results and their preferences for return.

Methods: We administered a paper and web-based 27-question survey to PCPs residing locally and caring for adult patients.

COVID-19 Mortality in the Colorado Center for Personalized Medicine Biobank.

Over 6.37 million people have died from COVID-19 worldwide, but factors influencing COVID-19-related mortality remain understudied. We aimed to describe and identify risk factors for COVID-19 mortality in the Colorado Center for Personalized Medicine (CCPM) Biobank using integrated data sources, including Electronic Health Records (EHRs).

The Healthcare Systems Research Network (HCSRN) as an Environment for Dissemination and Implementation Research: A Case Study of Developing a Multi-Site Research Study in Precision Medicine.

Context: In existence for nearly 25 years, the Healthcare Systems Research Network (HCSRN) is an established and sustainable network of health care systems that serves as a "real world" laboratory to enable the integration of research findings into practice. The objective of this paper is to demonstrate how the HCSRN serves as an ideal environment for studying dissemination and implementation of evidence-based practices into health care systems through the example of developing a multi-site study on the implementation of evidence-based precision medicine practices.

Case Description: The "Implementing Universal Lynch Syndrome Screening (IMPULSS)" study (NIH R01CA211723) involves seven HCSRN health care systems and two external health care systems.

Understanding the contribution of family history to colorectal cancer risk and its clinical implications: A state-of-the-science review.

Persons with a family history (FH) of colorectal cancer (CRC) or adenomas that are not due to known hereditary syndromes have an increased risk for CRC. An understanding of these risks, screening recommendations, and screening behaviors can inform strategies for reducing the CRC burden in these families. A comprehensive review of the literature published within the past 10 years has been performed to assess what is known about cancer risk, screening guidelines, adherence and barriers to screening, and effective interventions in persons with an FH of CRC and to identify FH tools used to identify these individuals and inform care.

Knowledge and Uptake of Genetic Counseling and Colonoscopic Screening Among Individuals at Increased Risk for Lynch Syndrome and their Endoscopists from the Family Health Promotion Project.

Objectives: Individuals whose families meet the Amsterdam II clinical criteria for hereditary non-polyposis colorectal cancer are recommended to be referred for genetic counseling and to have colonoscopic screening every 1-2 years. To assess the uptake and knowledge of guideline-based genetic counseling and colonoscopic screening in unaffected members of families who meet Amsterdam II criteria and their treating endoscopists.

Methods: Participants in the Family Health Promotion Project who met the Amsterdam II criteria were surveyed regarding their knowledge of risk-appropriate guidelines for genetic counseling and colonoscopy screening.

Efficacy of a Telehealth Intervention on Colonoscopy Uptake When Cost Is a Barrier: The Family CARE Cluster Randomized Controlled Trial.

Background: We tested the efficacy of a remote tailored intervention Tele-Cancer Risk Assessment and Evaluation (TeleCARE) compared with a mailed educational brochure for improving colonoscopy uptake among at-risk relatives of colorectal cancer patients and examined subgroup differences based on participant reported cost barriers.

Methods: Family members of colorectal cancer patients who were not up-to-date with colonoscopy were randomly assigned as family units to TeleCARE (N = 232) or an educational brochure (N = 249). At the 9-month follow-up, a cost resource letter listing resources for free or reduced-cost colonoscopy was mailed to participants who had reported cost barriers and remained nonadherent.

Colon cancer screening for Colorado's underserved: a community clinic/academic partnership.

Background: Colorectal cancer (CRC) is largely preventable by finding and removing adenomas, but many people have not been screened, especially the uninsured with low income.

Purpose: To establish a statewide infrastructure to ensure that low-income Coloradans receive colonoscopy for CRC screening and diagnostic evaluation.

Design: In 2006, a statewide program to provide free colonoscopy to uninsured Coloradans was developed as a partnership between the University of Colorado Cancer Center and Colorado safety-net clinics.

Long-term risk of medical conditions associated with breast cancer treatment.

Early and late effects of cancer treatment are of increasing concern with growing survivor populations, but relevant data are sparse. We sought to determine the prevalence and hazard ratio of such effects in breast cancer cases. Women with invasive breast cancer and women with no cancer history recruited for a cancer research cohort completed a mailed questionnaire at a median of 10 years post-diagnosis or matched reference year (for the women without cancer).

A randomized trial to increase colonoscopy screening in members of high-risk families in the colorectal cancer family registry and cancer genetics network.

Background: Individuals with a strong family history of colorectal cancer have significant risk for colorectal cancer, although adherence to colonoscopy screening in these groups remains low. This study assessed whether a tailored telephone counseling intervention can increase adherence to colonoscopy in members of high-risk families in a randomized, controlled trial.

Methods: Eligible participants were recruited from two national cancer registries if they had a first-degree relative with colorectal cancer under age 60 or multiple affected family members, which included families that met the Amsterdam criteria for hereditary non-polyposis colon cancer (HNPCC), and if they were due for colonoscopy within 24 months.

Telehealth personalized cancer risk communication to motivate colonoscopy in relatives of patients with colorectal cancer: the family CARE Randomized controlled trial.

Purpose: The rate of adherence to regular colonoscopy screening in individuals at increased familial risk of colorectal cancer (CRC) is suboptimal, especially among rural and other geographically underserved populations. Remote interventions may overcome geographic and system-level barriers. We compared the efficacy of a telehealth-based personalized risk assessment and communication intervention with a mailed educational brochure for improving colonoscopy screening among at-risk relatives of patients with CRC.

How do researchers manage genetic results in practice? The experience of the multinational Colon Cancer Family Registry.

There is consensus internationally that research participants should be offered the opportunity to receive clinically relevant genetic information identified through research, but there is little empirical peer-reviewed work documenting this process. We report the experience of conducting genetic research with nearly 35,000 participants in the Colon Cancer Family Registry, based in the USA, Canada, Australia, and New Zealand. Investigators from six multinational sites provided information about disclosure protocols, implementation, and uptake of genetic results and made suggestions to inform practice.

The Family Health Promotion Project (FHPP): design and baseline data from a randomized trial to increase colonoscopy screening in high risk families.

Colorectal cancer (CRC) is a significant cause of mortality and morbidity in the United States, much of which could be prevented through adequate screening. Consensus guidelines recommend that high-risk groups initiate screening earlier with colonoscopy and more frequently than average risk persons. However, a large proportion of high risk individuals do not receive regular colonoscopic screening.

Clinically relevant changes in family history of cancer over time.

Context: Knowledge of family cancer history is important for assessing cancer risk and guiding screening recommendations.

Objective: To quantify how often throughout adulthood clinically significant changes occur in cancer family history that would result in recommendations for earlier or intense screening.

Design And Setting: Descriptive study examining baseline and follow-up family history data from participants in the Cancer Genetics Network (CGN), a US national population-based cancer registry, between 1999 and 2009.

Awareness and preferences regarding BRCA1/2 genetic counseling and testing among Latinas and non-Latina white women at increased risk for hereditary breast and ovarian cancer.

This study was an investigation of awareness, cognitions, and psychosocial and educational needs related to genetic counseling and testing among Latinas and non-Latina whites at increased risk for having a BRCA1/2 mutation. Sixty-three Latina and eighty-four non-Latina white women completed telephone surveys employing a mixture of quantitative and qualitative questions assessing awareness, benefits, risks, barriers, and genetic counseling communication preferences regarding BRCA1/2 testing. Among participants who had not previously had genetic counseling/testing, 56.

Differential expression of prognostic biomarkers between interval and screen-detected breast cancers: does age or family history matter?

The aim of this study was to compare tumor expression of prognostic biomarkers between interval breast cancers and screen-detected breast cancers overall, and according to age at diagnosis and familial risk. Tissue micro-arrays were constructed from 98 breast cancers (47 interval and 51 screen-detected) diagnosed in women in the Cancer Genetics Network. Arrays were immuno-stained to compare protein expression of six biomarkers including estrogen and progesterone receptor (ER/PR), Her2/neu, EGFR, cytokeratin 5/6, and Ki67.

Complementary approaches to assessing risk factors for interval breast cancer.

Objective: To examine risk factors for interval breast cancer among women screened in a population-based mammography program.

Methods: Risk for interval cancer was assessed in terms of both the incidence per 10,000 negative screens and the proportion of all breast cancers diagnosed among screened women. Interval (N = 557) and screen-detected cancers (N = 1,545) were identified among 208,667 women receiving mammography in Colorado (1994-2001).

A novel approach to increase awareness about hereditary colon cancer using a state cancer registry.

Purpose: The aim of this project was to conduct educational outreach about hereditary colon cancer to a targeted high risk population identified through a state cancer registry.

Methods: Individuals who met one of the first three Bethesda criteria guidelines were identified through the Colorado Central Cancer Registry. The physician of record received a brochure, survey and form to provide written consent to contact patient(s).

The impact of direct-to-consumer marketing of cancer genetic testing on women according to their genetic risk.

Purpose: To assess the impact of direct-to-consumer marketing for genetic testing among women of varying genetic risk for breast and ovarian cancer.

Methods: Telephone surveys were conducted with 315 women in Denver, Colorado, one target audience for the Myriad BRACAnalysis ad campaign. Genetic risk was determined from personal and family history and grouped by probability of having a BRCA1/2 mutation (low <5%, moderate 5-<10%, high > or =10%).

Common familial colorectal cancer linked to chromosome 7q31: a genome-wide analysis.

Present investigations suggest that approximately 30% of colorectal cancer cases arise on the basis of inherited factors. We hypothesize that the majority of inherited factors are moderately penetrant genes, common in the population. We use an affected sibling pair approach to identify genetic regions that are coinherited by siblings with colorectal cancer.