Cancer Genetic Counseling Services Research Articles

Lessons learned in migrating from one commercial genetics decision-support tool to another: Assessment of data integrity and utilization readiness.

e23232 Background: Rapid advancements in health information technology have greatly influenced how clinicians engage with patient health data. In the context of clinical genetics, the electronic health record (EHR) often contains a wide array of data to identify patients at elevated risk for hereditary cancer syndromes. However, these data often exist in multiple forms and disparate locations, which in the presence of numerous commercial EHR solutions, results in significant variations in how institutions codify genetic data. Furthermore, within an institution, there is often internal pressure to migrate from one support tool to another, necessitating a focus on data integrity during such a transition. Methods: Fred Hutchinson Cancer Center (Fred Hutch) is a large academic cancer care center associated with the University of Washington. Between July and December 2023, the Fred Hutch Clinical Cancer Genetics and Genetic Counseling Service migrated their family history database from commercial pedigree software, Progeny, to another commercial pedigree and decision-support tool, CancerIQ. Following completion of the data migration on more than 13,000 patient records, study team planned to review a total of 500 randomly selected patient charts in both support tools. Each chart was reviewed to determine: (1) the presence of genetic intake information, (2) the presence and results of genetic testing, if available, and (3) whether the patient met National Comprehensive Cancer Network (NCCN) criteria for testing. A chart was noted to be concordant between the two support tools if there was agreement in all three of the above. Results: So far, a total of 240 patient charts were reviewed between the two support tools. Of these, 226 (94.2%) were noted to be fully concordant. Of the 14 charts that were noted to be discordant, the distribution of the discordant data was: 5 charts differed on whether genetic testing had been ordered, 5 charts differed on the results of the testing (often omitting one or more variants), and 4 differed on whether the patient met NCCN criteria for testing. Conclusions: At our institution, there was high data integrity following migration from one commercial and pedigree-generating software solution to another. While these results can ease clinician concerns following such support tools transitions, it also highlights areas for improvement in how family and patient genetic data is recorded.

Uptake of genetic testing among patients seeking cancer genetic counseling in Taiwan.

Genetic testing is becoming increasingly available and affordable. Understanding the reasons for individual decisions about genetic testing may assist in the identification of clinically appropriate use of genetic counseling and genetic testing resources. With the ongoing development of cancer genetic counseling services in Taiwan, we conducted this study to understand the characteristics of those seeking cancer genetic counseling and genetic testing and the predictors for undergoing genetic testing after counseling. Cross-sectional with correlational design was used in this study. Surveys completed by patients visiting the genetic counseling clinic at the cancer center included demographics, personal and family history of cancer, and questions on attitudes toward genetic counseling and genetic testing. Multinomial logistic regression was used to analyze the predictors of decision to undergo genetic testing. A total of 120 participants between the years 2018 and 2021 were analyzed, of which 54.2% were referred by health care professionals. The majority (76.7%) had a personal history of cancer and 50% had breast cancer. Over half (53.3%) had a strong family history of cancer defined as two or more 1st-degree relatives having cancer at a young age. Only 35.8% decided to receive genetic testing right after counseling and 47.5% were undecided. The main reason for hesitation or not pursuing testing was cost (41.4%). Multivariate logistic regression analysis showed that a positive attitude toward genetic counseling was significantly associated with the uptake of genetic testing (Odds ratio 7.60, 95% CI 2.34-24.66, p < 0.001). Given the significant number of individuals undecided about genetic testing after counseling, decision aid could be developed to support genetic counseling and increase satisfaction with the testing decision.

COVID-19's Impact on Cancer Screenings and Genetic Counseling Services

Inside Precision MedicineVol. 9, No. 4 ColumnsCOVID-19's Impact on Cancer Screenings and Genetic Counseling ServicesJoy Larsen HaidleJoy Larsen HaidleJoy Larsen Haidle, MS, CGC is a past-president of the National Society of Genetic Counselors and a genetic counselor at the North Memorial Health Cancer Center in Minneapolis.Search for more papers by this authorPublished Online:25 Aug 2022https://doi.org/10.1089/ipm.09.04.19AboutSectionsView articleView Full TextPDF/EPUB Permissions & CitationsPermissionsDownload CitationsTrack CitationsAdd to favorites Back To Publication ShareShare onFacebookTwitterLinked InRedditEmail View articleFiguresReferencesRelatedDetails Volume 9Issue 4Aug 2022 InformationCopyright © GEN PublishingTo cite this article:Joy Larsen Haidle.COVID-19's Impact on Cancer Screenings and Genetic Counseling Services.Inside Precision Medicine.Aug 2022.68-69.http://doi.org/10.1089/ipm.09.04.19Published in Volume: 9 Issue 4: August 25, 2022PDF download

Characterization of variant reclassification and patient re-contact in a cancer genetics clinic.

Expanded genetic testing guidelines for hereditary cancers, increased utilization of large multigene panels, and improved methods for reclassifying variants have led to a greater need to understand how variant reclassification and patient re-contact are managed. This study aimed to describe the process of variant reclassification and subsequent patient re-contact at a comprehensive cancer genetic counseling service in a large metropolitan medical center with several statewide satellite locations. A retrospective chart review was performed to identify reclassified variants between 1/1/1997 and 12/1/2020. In total, 8.4% (211/2503) of variants were reclassified over the 24-year period, which includes multiple cases involving the same unique variant. Several variants underwent more than one reclassification, resulting in 232 total reclassifications among 194 individuals. Nearly all reclassifications were prompted by the laboratory (99.1%; 230/232) rather than the genetics clinic staff. Overall, 10.3% (24/232) of all reclassifications were upgrades, but only 9.1% (21/232) led to a change in management recommendations. The median time for variant reclassification was 1.7 years (interquartile range [IQR]=0.8-3.2 years). There was no statistically significant difference in the time to reclassification for White patients (median=1.6 years; IQR=0.8-2.8 years) compared to non-White patients (median=2.0 years; IQR=0.9-3.7 years; Mann-Whitney U=4,764.0, p=0.066). Patient re-contact was attempted for 97.4% (226/232) of variants and was always performed by a genetic counselor, most often through a mailed letter (85.8%, 194/226). Specifically for reclassifications that led to a change in management recommendations, re-contact was always attempted, most often through combined telephone and mailed letter (95.2%; 20/21). Overall, the median time from reclassification to attempted patient re-contact was 13 days (range: 0-589 days). The characterization of this clinic's reclassification and re-contact procedures can serve as an example for other genetics clinics trying to incorporate re-contact into their workflow.

Cancer genetic counseling for childhood cancer predisposition is associated with improved levels of knowledge and high satisfaction in parents.

Previous surveys of adults with cancer have revealed increased levels of genetic knowledge, varying levels of worry, and high satisfaction with cancer genetic counseling. We sought to determine the impact of cancer genetic counseling on parental levels of genetic knowledge, worry about cancer, and satisfaction in the context of suspected cancer predisposition in a child. We hypothesized that parents would be satisfied with cancer genetic counseling and that cancer genetic counseling would improve baseline parental genetic knowledge and decrease levels of worry. Parents were recruited from a pediatric cancer predisposition clinic in the United States. A survey was administered to two cohorts: One cohort had received cancer genetic counseling in the past and only completed one survey (post-only, n=26), and another cohort completed the survey before and after cancer genetic counseling (pre/post, n=23). The survey included questions on demographics, knowledge of genetics, worry levels, and satisfaction with the cancer genetic counseling service. The post-genetic counseling survey also contained a free-text section for parents to indicate what they took away from the sessions. Parental levels of genetics knowledge increased by an average of 1.9 points (p=.01), with 65.2% of parents demonstrating an increase in genetics knowledge score. Average worry levels did not change significantly (p=.37), with 52.2% of parents indicating decreased worry, and 34.8% indicating increased worry. Overall, 91.8% of parents reported high levels of satisfaction. Our results show that cancer genetic counseling in a pediatric cancer predisposition clinic improves parental levels of genetics knowledge. Satisfaction rates suggest that parents find this service beneficial. These results demonstrate the positive impacts of cancer genetic counseling on parents of children in which a hereditary cancer syndrome is known or suspected.

Hereditary Cancer Genetic Risk Assessment, Testing, and Counseling: A Nurse Practitioner–Led Program in a Community Setting

The demand for hereditary cancer genetic risk assessment, testing, and counseling is growing. Nurse practitioners (NPs) can fill the gap to provide comprehensive genetic care, particularly in rural communities. The focus of this article is the role of NPs in providing hereditary cancer genetic risk assessment, testing, and counseling services to meet the needs of rural communities. The authors used the logic model to implement an NP-led hereditary cancer risk assessment, testing, and counseling program in a West Texas oncology clinic.

Telegenetics: Remote Counseling During the COVID-19 Pandemic.

During the COVID-19 pandemic, in-person provision of cancer genetic counseling and education services was not possible for a prolonged period. This article outlines why such services can continue remotely, despite the disruption of a pandemic, as well as describes the strengths and limitations of remote counseling to individuals and families about their hereditary risk for developing cancer. Considerations for the provision of remote counseling and some of the challenges of telehealth, with potential solutions, are described.

Genetic Counseling Clinic at AIIMS (New Delhi).

The field of genetic counseling in India has enormously transformed over the past few years. Genetic counseling is a communication process which deals with the human problems associated with the occurrence or risk of occurrence of a genetic disorder in a family. Genetic counseling is not merely having a conversation based on genomic data. It addresses the "information needs" of a particular patient, and customizes a session according to each patient's individual circumstances, thereby aiding in decision-making. In 2012, AIIMS (New Delhi) became the first tertiary care center in North India to provide genetic counseling for cancer. Among 200 cases that were referred for genetic counseling to the AIIMS clinic at the Department of Surgical Disciplines, about 30% of patients chose to undergo testing. Five cases of BRCA1/2 mutation were found conforming to the hereditary breast and ovarian cancer syndrome. There was one case of TP53 mutation conforming to Li-Fraumeni syndrome. One case each of Xeroderma Pigmentosum (XP) and Cowden's syndrome was also detected. All these cases were offered risk-reducing measures and put under life-long surveillance as per protocol. Their family members were also offered genetic counseling and subsequent testing if they agreed. Cancer genetic counseling service was a new exercise, and hence, several challenges were faced. The clinical utility of genetic testing, coupled with counseling, should be established by trials. Documenting the achievements of counseling by surrogate parameters like "improved recruitment rate of patients for genetic tests" and "improved patient satisfaction levels" will go a long way in garnering the much needed institutional support.

Exploring the barriers preventing Indigenous Australians from accessing cancer genetic counseling.

In Australia, individuals of Aboriginal and Torres Strait Islander descent (Indigenous Australians) have poorer health outcomes than the general population, including higher incidence of cancer and reduced life expectancy up to 14years compared to non-Indigenous Australians. Although differences in engagement with healthcare and beliefs about disease/cancer exist between Indigenous communities, a number of common barriers have been identified hindering attendance at mainstream health services. To inform exploration of barriers that may impact access to a cancer genetic counseling service, consultations with Aboriginal stakeholders were undertaken. Ethical principles for studies that engage Indigenous communities were followed throughout the research endeavor. Using a stakeholder-endorsed focus group approach, the views of an Aboriginal Elders group (n=9) were sought with additional semi-structured interviews with social science and genetics researchers working with Indigenous communities in Australia (n=7). Thematic analysis of the results identified three themes: explanatory models of illness, barriers to keeping well and attending services, and recommendations for improvements to access/attendance. Barriers common to accessing both mainstream health services and clinical genetic services were identified, including attributions of illness and cancer. Specific genetic counseling barriers included the cultural inclusivity and accessibility of services, and a lack of awareness of genetic counseling both in the community and by clinicians unfamiliar with genetics. Recommendations included developing flexible service delivery models and culturally appropriate resources for Indigenous patients. These findings may inform future studies to improve Indigenous health outcomes and promote a more accessible, culturally appropriate approach to provision of cancer genetics services for Australia's First Peoples.

Abstract P6-08-15: Racial and ethnic variation in BRCA1 and BRCA2 genetic test results among individuals referred for genetic counseling at a large urban comprehensive cancer center

Abstract Background It is estimated that up to 10% of women diagnosed with breast cancer in the United States have a BRCA1 or BRCA2 inherited susceptibility, which accounts for approximately 125,000 women. There are racial and ethnic differences in the prevalence and types of pathogenic mutations and variants of uncertain significance (VUS) in BRCA1 and BRCA2. To better understand the prevalence of recurring pathogenic mutations and/or uncover novel mutations in specific racial and ethnic groups, we evaluated the mutational profile of individuals who had genetic counseling and testing at a large urban NCI designated Comprehensive Cancer Center. Methods Data was extracted from the Karmanos Cancer Institute (KCI) Cancer Genetic Counseling Service database over a 19 year period through 12/31/18. The cohort consisted of 5,929 individuals evaluated for high-risk of hereditary disease at 6 sites across Michigan including Detroit. We estimated the prevalence of BRCA1/2 pathogenic mutations and variants of uncertain significance (VUS) by race and ethnicity. Odds Ratios (OR) and 95% confidence intervals (CI) were calculated to compare the rate of pathogenic and VUS mutations in race and ethnic groups with non-Hispanic whites (NHW) indicated as the reference group. Results There were 3,114 (52.5%) unrelated individuals who underwent clinical BRCA1/2 testing. The racial/ethnic breakdown of the cohort included: 68.4% NHW, 21% African American (AA), 2.7% Ashkenazi Jewish (AJ), 2.2% Arab, 0.9% Hispanic (H), and 4.8% other. There were 290 individuals with pathogenic mutations (137 BRCA1 and 153 BRCA2) and 186 with VUS (61 BRCA1 and 125 BRCA2). For BRCA1, there were no differences by race and ethnicity in pathogenic mutations, however AA and Arab individuals were more likely to have VUS compared to NHW (OR &amp; 95% CI, 2.63, 1.53-4.54 and 3.39, 1.01-11.41) respectively. For BRCA2, AJ individuals were more likely to have pathogenic mutations compared to NHW (OR &amp; 95% CI, 2.51, 1.22-5.17) and both AA and AJ individuals were more likely to have VUS (OR &amp; 95% CI, 1.55, 1.02-2.35 and 3.15, 95% CI 1.46-6.79) respectively. The table lists the most common pathogenic mutations seen in BRCA1 and BRCA2 by race and ethnicity. All mutations are unique and seen in more than one person unless indicated. Conclusions AA, Arab and AJ individuals were more likely to have VUS in BRCA1&amp;BRCA2 than NHW suggesting the importance of variant reclassification in understanding cancer risk in racial and ethnic minority groups. Understanding the prevalence of BRCA1/2 mutations in specific racial and ethnic groups can potentially lead to customization of genetic testing and possible classification of new founder mutations. The most common pathogenic mutations by race and ethnicityRace/EthnicityBRCA1 (n)BRCA2 (n)% of Total MutationsNHWp.Glu1756Pro (14)p.Ile605Asn (7)p.Cys61Glu (5)p.Arg645Glu (2)p.Ser1253Arg (4)p.Ala938Pro (2)BRCA1: 28/102=27.5%p.Lys894Thr (3)p.Glu2198Asn (2)BRCA2: 17/103=16.5%p.Asp825Glu (2)2)p.Gln1886Ter (2)p.Asn312Ile (2)AA5296del4 (2)p.Gly1013Glu (2)IVS16+6T&amp;gt;C (2)p.Lys2496Ter (2)BRCA1: 6/23=26.1%p.Thr276Ala (2)p.Lys936Asn (2)BRCA2: 8/32=25%p.Lys1872Asn (2)AJp.Glu23Val (1)p.Ser1982Arg (5)BRCA1: 1/1=100%BRCA2: 5/9=55.6%Arabp.Gln12X(1)p.Ile1859Lys (2)BRCA1: 1/5=20%BRCA2: 2/3 = 66.7%Hispanicp.Arg71Gly (1)p.Glu1308Ter (1)BRCA1: 1/1=100%BRCA2: 1/1=100% Citation Format: Michael Steven Simon, Nadline Abdallah, Hadeel Assad, Rachel Reagle, Nancie Petrucelli, Kristen Purrington. Racial and ethnic variation in BRCA1 and BRCA2 genetic test results among individuals referred for genetic counseling at a large urban comprehensive cancer center [abstract]. In: Proceedings of the 2019 San Antonio Breast Cancer Symposium; 2019 Dec 10-14; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2020;80(4 Suppl):Abstract nr P6-08-15.

Abstract P6-08-22: Racial and ethnic variation in multi-gene panel genetic test results among individuals referred for genetic counseling at a large urban comprehensive cancer center

Abstract Background There are racial and ethnic differences in the prevalence and types of pathogenic mutations and variants of uncertain significance (VUS) in BRCA1 and BRCA2. Since the landmark May 13, 2013 Supreme Court Ruling invalidating the patent for BRCA1 and BRCA2 genetic testing, numerous gene panels have been utilized to identify individuals at high risk for hereditary disease due to mutations in other cancer predisposing genes. To better understand the prevalence of recurring pathogenic mutations and/or uncover novel mutations in specific racial and ethnic groups, we evaluated the mutational profile of individuals who had genetic counseling and testing at a large urban NCI designated Comprehensive Cancer Center. Methods Data was extracted from the Karmanos Cancer Institute (KCI) Cancer Genetic Counseling Service data base from May 13, 2013 through December, 31, 2018. The cohort consisted of 3,544 unrelated individuals evaluated for high-risk of hereditary disease and 1,868 who had panel testing at 6 sites across Michigan including Detroit. We estimated the prevalence of pathogenic mutations and VUS from multigene panels by race and ethnicity. Odds Ratios (OR) and 95% confidence intervals (CI) were calculated to compare the rate of pathogenic mutations and VUS in race and ethnic groups with non-Hispanic whites (NHW) indicated as the reference group. Results There were 1,868 (52.7%) individuals who had panel testing which included 67.4% NHW, 24.1% African American (AA), 2.2% Arab, 1.9% Ashkenazi Jewish (AJ), 1.0% Hispanic (H), and 3.4% other. There were 174 individuals with pathogenic mutations and 312 with VUS. Compared to NHW, AA individuals were less likely to have pathogenic mutations on multi-panel testing (OR, 95% CI, 0.20, 0.10-0.37) and more likely to have VUS (OR, 95% CI, 1.41, 1.07-1.85). There were no differences in pathogenic mutations or VUS for other race or ethnic groups. Within a common 18 gene panel (excluding BRCA1 and BRCA2), the five most common genes with a pathogenic mutation were ATM (23), CHEK2 (21), PALB2 (13) and MSH6 (11). The three most common genes and number of pathogenic mutations identified by race and ethnicity were NHW (ATM -21, CHEK2-21&amp;MSH6 -8), AA (MSH6-1, RAD51C-1&amp;TP53-1), and Arab (PALB2-2, RAD50-1 and BARD1-1). For AJ individuals there were 2 pathogenic mutations identified in the MSH6 gene. There were no pathogenic mutations seen in Hispanics. Conclusions Understanding the prevalence of mutations in multi-gene panels in specific racial and ethnic groups can lead to better identification of individuals at risk for hereditary cancer who can benefit from enhanced surveillance and risk reducing management. Citation Format: Michael Steven Simon, Nadine Abdallah, Hadeel Assad, Malini Surapaneni, Rachel Reagle, Nancie Petrucelli, Kristen Purrington. Racial and ethnic variation in multi-gene panel genetic test results among individuals referred for genetic counseling at a large urban comprehensive cancer center [abstract]. In: Proceedings of the 2019 San Antonio Breast Cancer Symposium; 2019 Dec 10-14; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2020;80(4 Suppl):Abstract nr P6-08-22.

A patient-centered mobile health application to motivate use of genetic counseling among women with ovarian cancer: A pilot randomized controlled trial

ObjectiveDespite current guidelines recommending women with ovarian cancer receive genetic risk evaluation by a genetic counselor, utilization has historically been low. We sought to assess the feasibility and effectiveness of a week-long mobile Application for Genetic Information on Cancer (mAGIC) intervention aimed to persuade women with ovarian cancer to pursue genetic counseling. MethodsThe mobile application intervention was based on the Fogg Behavior Model, and consisted of three parts: (1) identifying barriers, (2) developing motivators, and (3) providing triggers to action. The Health Belief Model was used to guide content development. We conducted a prospective, randomized, controlled pilot trial among 104 untested women with a history of epithelial ovarian, primary peritoneal or fallopian tube cancer with the primary objective of increasing uptake of cancer genetic counseling services. ResultsUtilization of cancer genetic counseling services improved in both study arms over historical controls, however there was no statistically significant difference between them (intervention: 54.5% versus control: 38.6%; p = 0.14). However, compared to controls, women randomized to the mAGIC intervention demonstrated greater knowledge of hereditary cancer (0–10 scale; 9.4 ± 1.0 vs. 7.1 ± 1.5; p < 0.0001), which persisted for at least three months. Additionally, 96% of women in the intervention group reported they had talked with their family about genetic counseling compared to 77% in the control group (p = 0.01). ConclusionsThe mAGIC intervention did not result in increased uptake of genetic counseling, however it provided significant secondary benefits, including increased participants' knowledge about hereditary ovarian cancer, self-efficacy, and their reported communication with family members.ClinicalTrials.gov Identifier: NCT02877862

Current Approaches to Cancer Genetic Counseling Services for Spanish-Speaking Patients.

Barriers to genetic counseling services (GCS) utilization for Spanish-speaking patients (SSP) may include language barriers and limited availability of bilingual genetic counselors (GCs). The sample included GCs who: (1) practice cancer genetic counseling, (2) report a cancer practice setting, and (3) have a US mailing address. We assessed: (1) number of Spanish-speaking GCs, (2) estimated proportion of Hispanic patients, and (3) approaches used to counsel SSP. Of respondents (n = 229), 10% (n = 23) spoke Spanish. A higher proportion of GCs practicing in states with ≥25% Hispanics reported speaking Spanish compared to those in states with lower Hispanic populations (p = 0.02). While there was a significantly higher percentage of Spanish-speaking GCs in states with larger Hispanic populations, the absolute number was low and unlikely to meet the needs of patients. There is need to increase availability of GCS for SSPs and to understand the impact of services on patient health outcomes.

A Clinical Trial to Increase the Identification, Genetic Counseling Referral and Genetic Testing of Women at risk for Hereditary Breast and/or Ovarian Cancer

Background: Approximately 1/300 individuals in the general population are at risk for hereditary breast and ovarian cancer due to an inherited mutation in the BRCA1/BRCA2 genes. BRCA mutations are associated with dramatically increased risks for breast cancer, especially at younger ages, in addition to ovarian cancer. Enhanced screening and risk reduction strategies can significantly reduce associated morbidity and mortality. The United States Preventive Services Task Force (USPSTF) recommends identifying women at-risk for BRCA mutations for receipt of genetic counseling and if appropriate, testing. The Breast Cancer Genetics Referral Screening Tool (B-RST) is a validated screen endorsed by USPSTF to facilitate this process. This implementation study seeks to evaluate the most effective means of follow-up for screen-positive women to maximize the number who are referred to, and receive, cancer genetic counseling (CGC) services.

Why Is Cancer Genetic Counseling Underutilized by Women Identified as at Risk for Hereditary Breast Cancer? Patient Perceptions of Barriers Following a Referral Letter.

Family history information comprises an important tool in identifying and referring patients at risk for hereditary breast and ovarian cancer (HBOC) to cancer genetic counseling. Despite recommendations and support provided by numerous professional organizations, cancer genetic counseling services are underutilized by atrisk patients. This study aimed to: (1) determine the rate of genetic counseling utilization following a referral letter, (2) characterize factors (barriers and supports) which influenced uptake of services, and (3) identify potential strategies for increasing utilization. This study evaluated the uptake of cancer genetic counseling among 603 screening mammography patients identified as having an increased risk for HBOC based on National Comprehensive Cancer Network (NCCN) guidelines. At risk individuals and their primary care providers were mailed a referral letter recommending genetic counseling. Three focus groups (N=24) were conducted to identify responses to receiving a letter recommending genetic counseling, barriers to seeking genetic counseling, and facilitating factors to utilizing these services. Participant responses were qualitatively analyzed using thematic and cross case analysis. Within one year, 50/603 (8%) of the identified at-risk women completed a genetic counseling appointment. Participant-perceived barriers which influenced their decision not to seek genetic counseling included lack of relevance and utility, limited knowledge about genetic counseling, concerns about the genetic counseling process, and concerns about cost and insurance coverage. Participant-perceived facilitating factors which would support a decision to seek genetic counseling included greater awareness and education about genetic counseling services when receiving a referral, and improved follow up and guidance from their provider. Findings from this study support the need for patient and primary care provider education, and improved provider-patient communication to increase uptake of genetic counseling services.

Cancer Genetic Counseling Services (GCS) at Saint Francis Cancer Treatment Center (SFCTC).

e12506 Background: Approach to cancer prevention, detection, and therapy has been revolutionized by rapid progress in genetic/genomic technology making GCS a crucial component of cancer care. Major...

TP53 p.R337H prevalence in a series of Brazilian hereditary breast cancer families

BackgroundApproximately 5-10% of breast cancers are hereditary. Among hereditary syndromes, Hereditary Breast and Ovarian Cancer Syndrome (HBOC) and Li-Fraumeni Syndrome (LFS) have received the most attention. HBOC is due to mutations in the BRCA1 and BRCA2 genes and is characterized by breast adenocarcinoma and/or epithelial ovarian carcinoma. LFS is associated with germline mutations in TP53; the most frequent cancer types associated with this syndrome are sarcoma, breast cancer, leukemia, brain tumors and adrenocortical carcinomas. Other cancers related to LFS are found at lower frequencies. In Brazil, especially in the southern part of the country, a specific mutation in the TP53 gene, TP53 p.R337H, occurs at a high frequency in childhood adrenocortical tumors. It has been proposed that this mutation increases breast cancer risk in southern Brazilian women.MethodsWe carried out a case-control study to determine the prevalence of the TP53 p.R337H mutation in 28 female cancer patients attended at the Cancer Genetic Counseling Service of the General Hospital of the University of São Paulo Medical School of Ribeirão Preto who fulfilled Hereditary Breast and Ovary Cancer Syndrome genetic test criteria compared to healthy woman (controls). TP53 p.R337H mutation status was determined using the High Resolution Melting (HRM) method, followed by DNA sequencing. Fisher’s test was used to compare the prevalence of TP53 p.R337H in the patient and control groups.ResultsTwo of the breast cancer cases (7.1%) and none of the controls carried the TP53 p.R337H mutation. At the time of the investigation, both cases fulfilled testing criteria for Hereditary Breast and Ovary Cancer Syndrome but not Li-Fraumeni or Li-Fraumeni-like Syndrome, based on genetic testing criteria of NCCN Clinical Practice Guidelines in Oncology (v.1.2010).ConclusionsWe suggest that genetic screening of Brazilian breast cancer patients who fulfill Hereditary Breast and Ovary Cancer Syndrome criteria and have a family history that includes other tumors of the LFS/LFL spectrum be tested for the TP53 p.R337H mutation.

American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.

Approximately 5% to 10% of cancers are attributable to a hereditary cancer predisposition syndrome. Identifying those patients with cancer who have an inherited cancer predisposition syndrome has significant benefit both to the patient and to at-risk relatives. In addition, oncology patients' short- and long-term management can be personalized based on their genetic status. For example, in the short term, BRCA1/BRCA2-positive genetic test results can affect surgical decisions and may soon have an impact on systemic treatment options. In the long term, oncology patients' survivorship plans can be tailored to incorporate surveillance and prevention for their increased risk of second malignancies. Furthermore, the ability to perform predictive genetic testing on patients' family members results in a more precise risk assessment and initiation of appropriate screening and prevention strategies. Family history is key to the identification of those individuals who have an inherited predisposition to malignancy or who are at increased risk for additional primary cancers. The goals of any cancer family history should be to provide enough information to make a preliminary determination of the risk of a familial predisposition and to develop a preliminary management plan. A cancer family history taken at the first visit with the oncology provider can raise the suspicion of a hereditary cancer syndrome and prompt further investigation. After the initial visit, the ongoing relationship between the oncologist and the patient provides multiple opportunities for reassessment and updating of family history. This can prompt changes in recommended cancer screening. Additionally, the field of hereditary cancer predisposition is advancing rapidly. The long-term relationship between the oncologist and cancer survivor affords repeated opportunities for reassessment and recognition of newly defined cancer susceptibility genes and new opportunities for more advanced genetic testing that may apply to patients who have previously undergone genetic testing.1 Not only is hereditary risk assessment part of good oncology care, but there is also an increasing focus on the area of quality improvement with regard to the provision of genetic testing and counseling services. For example, the American College of Surgeons Commission on Cancer (CoC) grants accreditation only to facilities that are committed to excellence in cancer care and are able to comply with established CoC standards. The 2012 CoC program standards require that cancer risk assessment, genetic counseling, and testing services be provided to patients either on site or by referral by a qualified genetics professional. Furthermore, the American Society of Clinical Oncology (ASCO) Quality Oncology Practice Initiative (QOPI) includes measures regarding the collection and interpretation of cancer family histories and whether appropriate testing was ordered. ASCO has taken a lead in providing guidance and education regarding identification and management of individuals with inherited predisposition to malignancy. In 1996, ASCO published a policy statement on genetic testing for cancer susceptibility to foster expanded access to medical care for at-risk patients and their families, as well as to enhance continued advances in the quality of that care.2 This statement was updated in 2003 and again in 2010.3,4 Over the last two decades, ASCO has developed two editions of an educational syllabus (ASCO Curriculum: Cancer Genetics and Cancer Susceptibility Testing), has held numerous workshops and symposia, and has fostered a growing number of online education modules at ASCO University (http://university.asco.org/). Over the last several years, ASCO has assisted oncology professionals in responsibly integrating genetic testing into clinical oncology practice. A primary objective of this work has been to increase oncologists' core knowledge about hereditary cancer susceptibility syndromes, methods of cancer risk assessment and risk management, and risks and benefits of genetic testing. A challenge in developing guidance for practicing oncologists in this area is that there is no clear evidence base from which to define how a family history should be taken or what constitutes the right amount of information for an initial cancer screening family history. To address this need, the ASCO Cancer Genetics Subcommittee, under the auspices of the Cancer Prevention Committee, has developed this statement for oncology providers to Define a minimum cancer family history Provide guidance regarding interpretation and next steps Identify current barriers to accurate family history taking and interpretation To be clear, this consensus statement does not formulate specific guidelines for referral but seeks to provide clarification to the practicing oncology provider and other specialists on how and what to collect for a cancer family history and how to interpret the family history in the context of other information. To develop this statement, the Cancer Genetics Subcommittee convened a group of 15 experts in the areas of oncology, cancer genetics, and genetic counseling. A consensus conference was held in February 2012, and the deliberations from this meeting were used by the Cancer Genetics Subcommittee to generate this statement.

Iceland—Genetic Counseling Services

This brief report aims to give an overview of the history and current status of clinical genetics services in Iceland and specific genetic counseling considerations for Iceland's population. Presently, there are two part time medical geneticists and one full time genetic counselor with an MSc education from Cardiff, within the Department of Genetic and Molecular Medicine, based in Iceland's only tertiary healthcare facility, Landspitali, the National University Hospital. An oncologist (20%) also contributes to the cancer genetic counseling service. In addition, a pediatric medical geneticist has a 25% appointment at the Children's Hospital. No other health care organization offers genetic counseling, and there are no private genetic counseling services.

Improving access with a collaborative approach to cancer genetic counseling services: a pilot study

Improving access with a collaborative approach to cancer genetic counseling services: a pilot study