Genetic Testing For Cancer Susceptibility Research Articles

Abstract LB232: Implementation of population-based risk assessment for hereditary cancer in primary care: Results from the Early Detection of Genetic Risk (EDGE) Trial

Abstract The EDGE (Early Detection of GEnetic risk) trial compared two population-based engagement strategies for identifying primary care patients with a family or personal history of cancer and offered eligible individuals genetic testing for cancer susceptibility (GT). A total of twelve clinics from two healthcare systems (6 clinics each) participated in Montana, Wyoming and Washington State. Clinics were cluster-randomized to one of two engagement approaches: 1) point of care screening (POC), conducted by clinic staff when a patient came in for their appointment and 2) direct patient engagement (DPE), where letter and email outreach facilitated online home screening. Patients who completed screening and met pre-specified personal and family history criteria were offered GT via a home-delivered saliva kit at no cost. The two primary outcomes of the trial were the fraction of active clinic patients who 1) completed the risk assessment tool and 2) completed GT. Logistic regression models were used to compare POC and DPE, allowing for overdispersion and including clinic as a design factor. Analyses in the screened population were adjusted for age, sex, personal and/or family history of cancer, and healthcare system. Over a 12-month engagement window, 95,623 patients were seen in the 12 clinics (Table 1). The POC approach resulted in a higher proportion screened for hereditary risk (19.1% vs. 8.7%), but a similar proportion completed testing (1.5% vs. 1.6%). Notably, the rate of testing among eligible patients approached via POC was approximately half the rate observed with DPE (24.7% vs. 44.7%). POC screen completers were less likely to have a personal history of cancer (9.1% vs. 10.7%), a significant family history of cancer (9.5% vs. 12.8%), and, if eligible, order a test kit (33.8% vs. 58.1%). Overall, a POC approach resulted in higher screening rates for familial cancer risk but a similar fraction completing GT, with DPE screeners self-selecting due to greater personal and/or family history of cancer. Analyses are ongoing to examine patient, clinic and system-level factors predicting screening and testing uptake, which can inform best practices for population-based hereditary cancer screening efforts. POC % (N) DPE % (N) Unadjusted OR (POC vs DPE) Adjusted OR * (POC vs DPE) p-value Patient Denominator 51,693 43,930 Completed Screening 19.1% (9892) 8.7% (3813) 2.49 - 0.0074 Completed GT 1.5% (757) 1.6% (717) 0.89 - 0.75 Screened Participants 9892 3813 % screened with any personal cancer history 9.1% (902) 10.7% (406) 0.77 <0.0001 % of screened with significant** family history of cancer 9.5% (935) 12.8% (487) - 0.69 <0.0001 % of screened found eligible for GT 31.0% (3070) 42.0% (1603) - 0.65 <0.0001 Participants eligible for GT 3070 1603 % of eligible who ordered test kit 33.8% (1039) 58.1% (932) - 0.43 <0.0001 % of eligible who completed GT 24.7% (757) 44.7% (717) - 0.49 <0.0001 *Adjusted ORs - Adjusted for age, sex, personal cancer history, family cancer history, healthcare system.**Significant family history: 2 or more first degree relatives with a high-risk cancer Citation Format: Elizabeth M. Swisher, Heather M. Harris, Barbara M. Norquist, Jeannine Brant, Brian Shirts, Sarah Knerr, Emerson J. Dusic, Faith Beers, Tesla N. Theoryn, DaLaina Cameron, Howard Cabral, Laurie A. Riemann, Michael Raff, Beth Devine, Deborah J. Bowen, Catharine Wang. Implementation of population-based risk assessment for hereditary cancer in primary care: Results from the Early Detection of Genetic Risk (EDGE) Trial [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2024; Part 2 (Late-Breaking, Clinical Trial, and Invited Abstracts); 2024 Apr 5-10; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2024;84(7_Suppl):Abstract nr LB232.

Co-design of patient information leaflets for germline predisposition to cancer: recommendations for clinical practice from the UK Cancer Genetics Group (UKCGG), Cancer Research UK (CRUK) funded CanGene-CanVar Programme and the Association of Genetic Nurse Counsellors (AGNC)

BackgroundTesting for germline pathogenic variants (GPVs) in cancer predisposition genes is increasingly offered as part of routine care for patients with cancer. This is often urgent in oncology clinics due...

Genetic Testing for Cancer Susceptibility

Allison W. Kurian, MD, MSc; Paul Abrahamse, MA; Allison Furgal, PhD; Kevin C. Ward, PhD; Ann S. Hamilton, PhD; Rachel Hodan, MS; Rachel Tocco, MS; Lihua Liu, PhD; Jonathan S. Berek, MD, MMSc; Lily Hoang, BS; Amal Yussuf, BS; Lisa Susswein, MS, MHA; Edward D. Esplin, MD, PhD; Thomas P. Slavin, MD; Scarlett L. Gomez, PhD; Timothy P. Hofer, MD; Steven J. Katz, MD, MPH

Patient decision support resources inform decisions about cancer susceptibility genetic testing and risk management: a systematic review of patient impact and experience.

Patients with genetic cancer susceptibility are presented with complex management options involving difficult decisions, for example about genetic testing, treatment, screening and risk-reducing surgery/medications. This review sought to explore the experience of patients using decision support resources in this context, and the impact on decision-making outcomes. Systematic review of quantitative, qualitative and mixed-methods studies involving adults with or without cancer who used a decision support resource pre- or post-genetic test for any cancer susceptibility. To gather a broad view of existing resources and gaps for development, digital or paper-based patient resources were included and not limited to decision aids. Narrative synthesis was used to summarise patient impact and experience. Thirty-six publications describing 27 resources were included. Heterogeneity of resources and outcome measurements highlighted the multiple modes of resource delivery and personal tailoring acceptable to and valued by patients. Impact on cognitive, emotional, and behavioural outcomes was mixed, but mainly positive. Findings suggested clear potential for quality patient-facing resources to be acceptable and useful. Decision support resources about genetic cancer susceptibility are likely useful to support decision-making, but should be co-designed with patients according to evidence-based frameworks. More research is needed to study impact and outcomes, particularly in terms of longer term follow-up to identify whether patients follow through on decisions and whether any increased distress is transient. Innovative, streamlined resources are needed to scale up delivery of genetic cancer susceptibility testing for patients with cancer in mainstream oncology clinics. Tailored patient-facing decision aids should also be made available to patients identified as carriers of a pathogenic gene variant that increases future cancer risks, to complement traditional genetic counselling. https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42020220460, identifier: CRD42020220460.

Pathogenic variant profile in DNA damage response genes correlates with metastatic breast cancer progression-free survival in a Mexican-mestizo population.

Metastatic breast cancer causes the most breast cancer-related deaths around the world, especially in countries where breast cancer is detected late into its development. Genetic testing for cancer susceptibility started with the BRCA 1 and 2 genes. Still, recent research has shown that variations in other members of the DNA damage response (DDR) are also associated with elevated cancer risk, opening new opportunities for enhanced genetic testing strategies. We sequenced BRCA1/2 and twelve other DDR genes from a Mexican-mestizo population of 40 metastatic breast cancer patients through semiconductor sequencing. Overall, we found 22 variants -9 of them reported for the first time- and a strikingly high proportion of variations in ARID1A. The presence of at least one variant in the ARID1A, BRCA1, BRCA2, or FANCA genes was associated with worse progression-free survival and overall survival in our patient cohort. Our results reflected the unique characteristics of the Mexican-mestizo population as the proportion of variants we found differed from that of other global populations. Based on these findings, we suggest routine screening for variants in ARID1A along with BRCA1/2 in breast cancer patients from the Mexican-mestizo population.

Psychosocial factors impacting barriers and motivators to cancer genetic testing.

Only a small proportion of patients who qualify for clinical genetic testing for cancer susceptibility get testing. Many patient-level barriers contribute to low uptake. In this study, we examined self-reported patient barriers and motivators for cancer genetic testing. A survey comprised of both new and existing measures related to barriers and motivators to genetic testing was emailed to patients with a diagnosis of cancer at a large academic medical center. Patients who self-reported receiving a genetic test were included in these analyses (n= 376). Responses about emotions following testing as well as barriers and motivators prior to getting testing were examined. Group differences in barriers and motivators by patient demographic characteristics were examined. Being assigned female at birth was associated with increased emotional, insurance, and family concerns as well as increased health benefits compared to patients assigned male at birth. Younger respondents had significantly higher emotional and family concerns compared to older respondents. Recently diagnosed respondents expressed fewer concerns about insurance implications and emotional concerns. Those with a BRCA-related cancer had higher scores on social and interpersonal concerns scale than those with other cancers. Participants with higher depression scores indicated increased emotional, social and interpersonal, and family concerns. Self-reported depression emerged as the most consistent factor influencing report of barriers to genetic testing. By incorporating mental health resources into clinical practice, oncologists may better identify those patients who might need more assistance following through with a referral for genetic testing and the response afterwards.

Abstract A029: A randomized study of two Strategies of remote Genetic Education, Risk Assessment, and Testing (GENERATE) for family members of patients with pancreatic cancer

Abstract Background: Uptake of genetic testing for cancer susceptibility in family members of cancer patients is suboptimal. The GENetic Education, Risk Assessment, and TEsting (GENERATE) study evaluated two strategies of remote genetic education and testing in relatives of pancreatic ductal adenocarcinoma (PDAC) patients. Methods: Eligible participants had: a first-degree relative with PDAC or had a known pathogenic germline variant (PGV) in one of thirteen PDAC predisposition genes (APC, ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, or TP53) and a first- or second-degree relative with PDAC. Participants were cluster-randomized by family into one of two arms. Arm 1 included an interactive telemedicine session with a genetic counselor, followed by genetic testing at a commercial laboratory. Arm 2 involved remote online genetic education and testing at the commercial laboratory without the interactive session. The primary outcome was uptake of genetic testing across study arms, which was compared by permutation tests and mixed-effects logistic regression models. Results: Between 5/8/2019 and 6/1/2021, 424 families were randomized, including 601 participants (n=296 Arm 1; n=305 Arm 2). The uptake of genetic testing was 87% (257/296) in Arm 1 and 93% (284/305) in Arm 2 (p=0.014). Participants in Arm 1 were significantly less likely to obtain genetic testing compared to Arm 2 (Adjusted ratio [Arm1/Arm2] 0.90, 95% confidence interval 0.78-0.98). BRCA2, ATM, CDKN2A and PALB2 were the most common PDAC susceptibility genes in which PGVs were identified. Conclusions: Remote methods of genetic education and testing are successful alternatives to traditional germline susceptibility testing. Citation Format: Nicolette J. Rodriguez, C. Sloane Furniss, Matthew B. Yurgelun, Chinedu Ukaegbu, Pamela E. Constantinou, Ileana Fortes, Alyson Caruso, Alison N. Schwartz, Jill E. Stopfer, Meghan Underhill-Blazey, Barbara Kenner, Scott H. Nelson, Sydney Okumura, Alicia Y. Zhou, Tara B. Coffin, Hajime Uno, Miki Horiguchi, Allyson J. Ocean, Florencia McAllister, Andrew M. Lowy, Scott M. Lippman, Alison P. Klein, Lisa Madlensky, Gloria M. Petersen, Judy E. Garber, Michael G. Goggins, Anirban Maitra, Sapna Syngal. A randomized study of two Strategies of remote Genetic Education, Risk Assessment, and Testing (GENERATE) for family members of patients with pancreatic cancer [abstract]. In: Proceedings of the AACR Special Conference on Pancreatic Cancer; 2022 Sep 13-16; Boston, MA. Philadelphia (PA): AACR; Cancer Res 2022;82(22 Suppl):Abstract nr A029.

Mainstreamed genetic testing of patients with breast cancer: Experience from a single surgeon’s practice in a large U.S. academic center.

10577 Background: Germline genetic testing for cancer susceptibility has proven to be a powerful tool in cancer risk assessment, screening, and prevention but a huge gap exists between the number of germline genetic testing candidates and the number of patients actually tested. This study aimed to evaluate the impact of mainstreamed genetic testing (MGT) model into a single academic breast surgeon’s practice on genetic test completion. Methods: Before September 2019 (pre-MGT phase), a breast surgery practice at Massachusetts General Hospital followed a traditional model of pre-test consultation with a genetic professional. After September 2019 (post-MGT phase), the same practice offered eligible patients with immediate testing in the same visit. We evaluated the appointment completion in the pre-MGT phase and compared the test uptake and test results between the two phases. Results: We identified 204 patients in the pre-MGT phase and 202 patients in the post-MGT phase. In the pre-MGT phase, the median waiting time for genetic counseling was seven days for patients with a newly diagnosed cancer, 211 days for patients with a remote personal history of cancer, and 224 days for non-cancer patients who had a family history. A total of 105 (51.5%) patients completed a genetic counseling appointment (Table). In the post-MGT phase, a significantly higher proportion of patients (88.1%, p < 0.001) consented to genetic testing, while the proportion of patients who tested positive was lower (pathogenic variant: 11.9% vs. 20.0%; variant of uncertain significance: 19.9% vs. 28.0%; p = 0.047). Conclusions: Implementing MGT can reduce the number of clinical visits, significantly shorten patients’ wait time to test initiation, and increase the completion of genetic testing. [Table: see text]

Distress facing increased genetic risk of cancer: The role of social support and emotional suppression

ObjectivesHealthy individuals from hereditary cancer families undergoing genetic testing for cancer susceptibility (GTC) report more distress when they perceive their social support as low and suppress their emotions. This study aimed to explore how suppressing emotions and perceiving others as unsupportive are related with cancer-risk distress. MethodsWe performed a regression-based mediation analysis to assess if expressive suppression mediates or is mediated by perceived social support in the relation with cancer-risk distress. Participants were 125 healthy adults aged over 18 (M = 36.07, SD = 12.86), mostly female (72,4%), who undergone GTC to assess the presence of hereditary breast and ovarian cancer or Lynch syndromes. ResultsControlling for age and gender, we found a moderate size indirect effect of social support on cancer-risk distress through expressive suppression (β = −0.095) and a direct effect of expressive suppression on cancer-risk distress. ConclusionsWhen healthy individuals from hereditary cancer families perceive their social network as less responsive, they tend to not express their emotions, which relates to increased distress facing GTC. Practice implicationsPractitioners may assess cancer-risk related distress before the GTC and offer distressed individuals interventions focused on changing emotion regulation strategies in a safe group context.

EP507: Patients’ reasons for genetic testing refusal in cancer evaluations: An analysis of the literature and opportunities to educate

eP507: Patients’ reasons for genetic testing refusal in cancer evaluations: An analysis of the literature and opportunities to educate

DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)

DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)

Health Disparities in Germline Genetic Testing for Cancer Susceptibility

Despite advances in testing for heritable cancer susceptibility gene mutations, health disparities persist. We review racial/ethnic and socioeconomic factors that affect access to genetic counseling and testing, which may influence the validity of results among diverse populations and the clinical utility of genetic testing. Differential access to genetic testing among racial/ethnic minorities including Hispanics and blacks compared with whites drives disparities in the clinical validity of results: specifically, variants of unknown significance (VUS) are notably more prevalent in minorities. Deficiencies in results interpretation by patients and providers are common with VUS, which may engender disparities in clinical utility. There is evidence of racial/ethnic disparities in genetic testing access and the clinical validity of results, which are threats to the clinical utility of testing for all populations. Concerted efforts are needed to decrease disparities in germline cancer genetic testing and results’ interpretation and management.

Evaluating Susceptibility to Pancreatic Cancer: ASCO Provisional Clinical Opinion.

An ASCO provisional clinical opinion (PCO) offers timely clinical direction to ASCO's membership and other health care providers. This PCO addresses identification and management of patients and family members with possible predisposition to pancreatic adenocarcinoma. ASCO convened an Expert Panel and conducted a systematic review of the literature published from January 1998 to June 2018. Results of the databases searched were supplemented with hand searching of the bibliographies of systematic reviews and selected seminal articles and contributions from Expert Panel members' curated files. All patients diagnosed with pancreatic adenocarcinoma should undergo assessment of risk for hereditary syndromes known to be associated with an increased risk for pancreatic adenocarcinoma. Assessment of risk should include a comprehensive review of family history of cancer. Individuals with a family history of pancreatic cancer affecting two first-degree relatives meet criteria for familial pancreatic cancer (FPC). Individuals (cancer affected or unaffected) with a family history of pancreatic cancer meeting criteria for FPC, those with three or more diagnoses of pancreatic cancer in same side of the family, and individuals meeting criteria for other genetic syndromes associated with increased risk for pancreatic cancer have an increased risk for pancreatic cancer and are candidates for genetic testing. Germline genetic testing for cancer susceptibility may be discussed with individuals diagnosed with pancreatic cancer, even if family history is unremarkable. Benefits and limitations of pancreatic cancer screening should be discussed with individuals whose family history meets criteria for FPC and/or genetic susceptibility to pancreatic cancer. Additional information is available at www.asco.org/gastrointestinal-cancer-guidelines .

Cancer Susceptibility Genetic Testing in a High-Risk Cohort of Urban Ashkenazi Jewish Individuals.

Prior to 2013, genetic testing for Ashkenazi Jewish (AJ) individuals primarily consisted of the three-site BRCA1/BRCA2 AJ panel, full sequencing of BRCA1/2, or the Lynch syndrome mismatch repair genes. Multigene panel testing became more widely available in 2013, but limited data are available regarding the impact of multigene panel testing for AJ individuals. Here, we report the frequency of cancer susceptibility gene mutations in a cohort of 427 AJ individuals seen in the Cancer Risk Clinic at The University of Chicago. We found that 29% of affected and 37% of unaffected individuals carried a pathogenic mutation (32% of overall cohort), primarily known familial mutations in BRCA1/2. A minority of mutations were identified in non-BRCA1/2 genes and consisted mainly of AJ founder mutations in CHEK2, APC, and the mismatch repair genes. A panel of AJ founder mutations would have identified the majority (94%) of mutations in clinically actionable genes in both affected and unaffected patients. Based on recent cost-effectiveness studies, offering all AJ individuals a founder mutation panel may be a cost-effective cancer prevention strategy.

Paradoxes of genetic testing for cancer susceptibility: Empowerment and risk

Paradoxes of genetic testing for cancer susceptibility: Empowerment and risk

Abstract DPOC-004: MAGENTA: MAking GENetic Testing more Accessible

Abstract The standard paradigm for cancer susceptibility genetic testing has been for patients to 1) be identified by their provider as being at high risk due to extensive family history or another diagnosis (e.g., breast cancer for ovarian risk testing), and 2) attend in–person pre and post– genetic test sessions with a genetic counselor to prepare for testing and learn about the results. This arrangement places boundaries around the types of women willing to spend this time and effort receiving testing, as providers are required to act as gatekeepers to the testing process. More open methods of accessing genetic testing and providing support need to be evaluated. We propose to deliver personal, risk–based genetic testing and results to women from the general public using the Internet. Internet–based services offer several advantages over either in–person or telephone interventions. First, information can be accessed by participants and providers on their own schedules, at any location with internet access, and can be consumed at the pace and style that is best for individual tastes and styles. If necessary, information and support can be re–reviewed if the patient does not remember the initial counseling session. Second, delivery of information through the internet can be performed in a more efficient and cost–effective manner, reserving the limited in–person genetic counseling for individuals who need it the most, while providing support to the general public about basic medical and risk–based information. Recruitment via social media outlets can directly link potential participants to the Internet systems that screen for eligibility and provide testing support. Finally, Internet delivery can bring genetic testing to the patient in their home, eliminating a major barrier to testing (multiple visits to the provider) The main objective of MAGENTA is to test the effects of on–line genetic education versus telephone genetic counseling on cancer distress and other psychological outcomes. We will recruit women using social media and other eHealth methods to participate in a randomized trial of ovarian cancer counseling and testing that is conducted online and using the telephone. We will conduct a (2x2 factorial design) randomized trial to test online versus telephone pre– and post–test genetic counseling for ovarian cancer risk among women at higher than average risk for ovarian cancer. We expect to enroll 3000 women through our media contacts to participate in MAGENTA. For genetic risk assessment, we will evaluate and provide feedback on 19 breast and ovarian cancer (OC) genes that have a clear relationship to cancer risk in collaboration with Color Genomics. Variants include ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MSH2, MSH6, MLH1, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, TP53, and STK1. We will follow women for main psychological outcomes at 3 months post testing and longer for other outcomes. Citation Format: Swisher E., Lu K., Bowen DJ, Gavin K. MAGENTA: MAking GENetic Testing more Accessible [abstract]. In: Proceedings of the 11th Biennial Ovarian Cancer Research Symposium; Sep 12-13, 2016; Seattle, WA. Philadelphia (PA): AACR; Clin Cancer Res 2017;23(11 Suppl):Abstract nr DPOC-004.

A state-wide initiative to promote genetic testing in an underserved population.

Genetic testing for cancer susceptibility has been widely studied and utilized clinically. Access to genetic services in research and practice is largely limited to well‐insured, Caucasian individuals. In 2009, the Cancer Resource Foundation (CRF) implemented the Genetic Information for Treatment Surveillance and Support (GIFTSS) program to cover the out‐of‐pocket expenses associated with cancer genetic testing, targeting high‐risk individuals with limited financial means and limited health insurance coverage. Here, we (i) describe the characteristics of participants in the Massachusetts (MA) GIFTSS program and (ii) evaluate mutations found in this diverse sample. A secondary retrospective data analysis was performed using de‐identified demographic data obtained from laboratory requisition forms and cancer genetic testing result information from the laboratory source. Eligible participants were those who utilized the MA GIFFTS program from 2009 through December of 2014. Data were summarized using descriptive measures of central tendency. Participants were residents of Massachusetts who had health insurance and had a reported income within 250–400% of the federal poverty level. Genetic testing results were categorized following clinical guidelines. Overall, 123 (13%) of participants tested positive for a mutation in a cancer susceptibility gene. For those with a cancer diagnosis, 65 (12%) were found to have a positive result and 20 (7%) had a variant of uncertain significance (VUS). For those unaffected patients, 58 (15%) had a positive result and 10 (3%) were found to have a VUS. The results from this study are useful in describing genetic testing outcomes in this high‐risk underserved community. Repeatedly, the literature reports that individuals from diverse or limited resource settings are less likely to access genetic testing. Continued research efforts should be devoted to promoting the access of genetic testing in the high‐risk, underserved community.

Application of Panel-Based Tests for Inherited Risk of Cancer.

Next-generation or massively parallel sequencing has transformed the landscape of genetic testing for cancer susceptibility. Panel-based genetic tests evaluate multiple genes simultaneously and rapidly. Because these tests are frequently offered in clinical settings, understanding their clinical validity and utility is critical. When evaluating the inherited risk of breast and ovarian cancers, panel-based tests provide incremental benefit compared with BRCA1/2 genetic testing. For inherited risk of other cancers, such as colon cancer and pheochromocytoma-paraganglioma, the clinical utility and yield of panel-based testing are higher; in fact, simultaneous evaluation of multiple genes has been the historical standard for these diseases. Evaluating inherited risk with panel-based testing has recently entered clinical practice for prostate and pancreatic cancers, with potential therapeutic implications. The resulting variants of uncertain significance and mutations with unclear actionability pose challenges to service providers and patients, underscoring the importance of genetic counseling and data-sharing initiatives. This review explores the evolving merits, challenges, and nuances of panel-based testing for cancer susceptibility.

Lifestyle Risk Factors Among People Who Have Had Cancer Genetic Testing.

Hereditary cancer genetic counseling often focuses on medically intensive risk-reduction strategies, like imaging and risk-reducing surgeries. Lifestyle factors also influence cancer risk, but health behavior counseling is not common in genetic counseling. Information about typical lifestyle risk factors among patients seeking hereditary cancer risk is sparse. The current study describes cancer risk-relevant lifestyle factors for people who have had cancer genetic testing. Data came from the Health Information National Trends Survey (HINTS 4) collected in 2013. Analytic variables represented American Cancer Society nutrition and physical activity guidelines. Lifestyle factors were assessed for people who had undergone testing for BRCA1, BRCA2, or Lynch Syndrome genes. Among 3016 HINTS respondents, 135 had cancer genetic testing. Of these, 58% were overweight or obese. Eighteen percent reported no moderate-intensity physical activity. Average sedentary screen-time was 3.4h (SE=0.472) daily. Sixty-three percent drank non-diet soda, and 23% of these people drank soda every day. Between 18 and 36% consumed less than 2 ½ cups fruits/vegetables daily. Twenty-four percent were current smokers. Lifestyle risk factors were not different between people who had genetic testing and those who had not. In conclusion, most people who had genetic testing for cancer susceptibility have at least one modifiable risk factor. Genetic counselors have opportunities to impact a counselee's cancer risk not only through risk-tailored medical procedures, but also through lifestyle modification recommendations. Results of the current study may foster a broader discussion of genetic counselors' roles in healthy lifestyle education.

Population genetic testing for cancer susceptibility: founder mutations to genomes.

The current standard model for identifying carriers of high-risk mutations in cancer-susceptibility genes (CSGs) generally involves a process that is not amenable to population-based testing: access to genetic tests is typically regulated by health-care providers on the basis of a labour-intensive assessment of an individual's personal and family history of cancer, with face-to-face genetic counselling performed before mutation testing. Several studies have shown that application of these selection criteria results in a substantial proportion of mutation carriers being missed. Population-based genetic testing has been proposed as an alternative approach to determining cancer susceptibility, and aims for a more-comprehensive detection of mutation carriers. Herein, we review the existing data on population-based genetic testing, and consider some of the barriers, pitfalls, and challenges related to the possible expansion of this approach. We consider mechanisms by which population-based genetic testing for cancer susceptibility could be delivered, and suggest how such genetic testing might be integrated into existing and emerging health-care structures. The existing models of genetic testing (including issues relating to informed consent) will very likely require considerable alteration if the potential benefits of population-based genetic testing are to be fully realized.