Telephone Genetic Counseling Research Articles

Modified panel-based genetic counseling for ovarian cancer susceptibility: A randomized non-inferiority study

ObjectiveGenetic testing identifies cancer patients who may benefit from targeted treatment and allows for enhanced cancer screening and risk-reduction in their at-risk relatives. Traditional models of genetic counseling (GC) cannot meet the increasing demand and urgency for genetic testing. The objective of this study was to evaluate a new model of service delivery to improve the efficiency of pre-test GC for panel-based genetic testing. MethodsA parallel, two-armed, randomized non-inferiority study compared traditional and modified pre-test GC models (1:2) prior to panel-based genetic testing. Participants were adult females, whose first-degree relative died of serous ovarian cancer. In the modified group, participants were emailed a 20-minute presentation prior to a scheduled pre-test GC telephone call. Psychosocial and knowledge questionnaires were provided at baseline (P1) and one week after pre-test GC (P2). Results382 women completed pre-test GC (256 modified, 126 traditional). There were no differences in marital status, education level or household income. Pre-test GC time was shorter in the modified group (average 19 vs. 46 min, p < 0.001), with no difference in post-test GC time (average 16 min each, p = 0.78). The modified pre-test GC model was found to be non-inferior to traditional GC on measures of cancer-specific distress, depression, anxiety, decisional conflict, ovarian cancer knowledge and satisfaction. Perceived lifetime risk for ovarian cancer decreased to a lesser extent from baseline in women who received modified pre-test GC. ConclusionsA 20-minute presentation prior to pre-test telephone GC is non-inferior to traditional in-person GC on all variables tested, except for perceived ovarian cancer risk. This modified model improved GC efficiency without negatively affecting psychosocial outcomes, providing an alternative strategy to meet the growing demand for genetic testing.

High patient satisfaction with a simplified BRCA1/2 testing procedure: long-term results of a prospective study

PurposeIn the BRCAsearch study, unselected breast cancer patients were prospectively offered germline BRCA1/2 mutation testing through a simplified testing procedure. The purpose of the present study was to evaluate satisfaction with the BRCAsearch testing procedure and, furthermore, to report on uptake rates of prophylactic surgeries among mutation carriers.MethodsPre-test information was provided by a standardized invitation letter instead of in-person genetic counseling. The patients were offered contact with a genetic counselor for telephone genetic counseling if they felt a need for that. Mutation carriers were telephoned and given a time for a face-to-face post-test genetic counseling appointment. Non-carriers were informed about the test result through a letter. One year after the test results were delivered, a study-specific questionnaire was mailed to the study participants who had consented to testing. The response rate was 83.1% (448 of 539).ResultsA great majority (96.0%) of the responders were content with the method used for providing information within the study, and 98.7% were content with having pursued genetic testing. 11.1% answered that they would have liked to receive more oral information. In an adjusted logistic regression model, patients with somatic comorbidity (OR 2.56; P = 0.02) and patients born outside of Sweden (OR 3.54; P = 0.01) were more likely, and patients with occupations requiring at least 3 years of university or college education (OR 0.37; P = 0.06) were less likely to wanting to receive more oral information. All 11 mutation carriers attended post-test genetic counseling. At a median follow-up of 2 years, the uptake of prophylactic salpingo-oophorectomy was 100%, and the uptake of prophylactic mastectomy was 55%.ConclusionsSatisfaction with a simplified BRCA1/2 testing procedure was very high. Written pre-test information has now replaced in-person pre-test counseling for breast cancer patients in our health care region.

2067 Developing a cultural adaptation of a telephone genetic counseling intervention for Latina women at-risk of hereditary breast and ovarian cancer

OBJECTIVES/SPECIFIC AIMS: The overall goal of this project is to enhance the use of GCRA in Latina breast cancer survivors at high risk of hereditary breast and ovarian cancer to reduce disparities in GCRA uptake. The aims of the study are to (1) develop a cultural adaptation of an evidence-based TGC intervention that consists of phone genetic counseling and a booklet, (2) evaluate the impact of TGC Versus Usual Care, and (3) explore the communication patterns in TGC and genetic counseling sessions with an interpreter. METHODS/STUDY POPULATION: We are conducting a 2-phase, mixed methods study. In Phase I we will develop a cultural adaption of an evidence-based intervention (TGC) for high-risk Latina breast cancer survivors using the Learner Verification and Revision Framework (n=15). In Phase II we will use a cluster randomized design with four community sites randomized to Spanish TGC (n=2 sites) or usual care (n=2 sites) (n=60; 15 per site). The primary outcome is genetic counseling uptake. Among women who receive genetic counseling either through TGC (n~30) or with an interpreter (n~15), we will assess counseling quality by reviewing 20 randomly selected audiotaped sessions (10 TGC; 10 interpreters). We will evaluate women’s HBOC knowledge and satisfaction with counseling. Communication processes and outcomes will be assessed using gold standard RIAS quantitative coding system and qualitative discourse analysis. RESULTS/ANTICIPATED RESULTS: We elicited input from transdisciplinary team members to develop an initial adaptation of a TGC print booklet and intervention protocol for use with high-risk Latina breast cancer survivors with limited English proficiency. The booklet contains low-literacy information about HBOC, risk factors, pros and cons of testing, and management strategies. Based on these materials and prior work, we anticipate TGC will consist of one 1 hour or less TGC session by phone. Participants interested in pursuing testing will receive a saliva kit and will participate in a second TGC session (30 min) to discuss test results and management options. DISCUSSION/SIGNIFICANCE OF IMPACT: Given access barriers and the shortage of Spanish-speaking genetic counselors, adapting and translating TGC intervention is a promising strategy that could reduce disparities by broadening the reach and accessibility to genetic counseling while enhancing the quality of the service for Latinas with limited English proficiency.

BRCAsearch: written pre-test information and BRCA1/2 germline mutation testing in unselected patients with newly diagnosed breast cancer

PurposeTo evaluate a simplified method of pre-test information and germline BRCA1/2 mutation testing.MethodsIn a prospective, single-arm study, comprehensive BRCA1/2 testing was offered to unselected patients with newly diagnosed breast cancer at three hospitals in south Sweden (BRCAsearch, ClinicalTrials.gov Identifier: NCT02557776). Pre-test information was provided by a standardized invitation letter, but the patients could contact a genetic counselor for telephone genetic counseling if they felt a need for that. Noncarriers were informed about the test result through a letter. Mutation carriers were contacted and offered an appointment for in-person post-test genetic counseling.ResultsDuring the period Feb 2, 2015–Aug 26, 2016, eight hundred and eighteen patients were invited to participate in the study. Through Jan 31, 2017, five hundred and forty-two (66.2%) of them consented to analysis of BRCA1 and BRCA2. Eleven pathogenic mutations were found (BRCA1, n = 2; BRCA2, n = 9), corresponding to a mutation prevalence of 2.0%. Six out of 11 fulfilled the Swedish BRCA testing criteria, and 9 out of 11 fulfilled the NCCN testing criteria. None of the BRCA-associated tumors were of the luminal A-like subtype. Very few patients contacted us for telephone genetic counseling or practical questions, suggesting that a majority felt that the written pre-test information was sufficient for them to make a decision on testing.ConclusionsStreamlining the process of pre-test information, genetic testing, and delivery of test results was feasible and was associated with an uptake of genetic testing in 2/3 of the breast cancer patients.

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.

Randomized Noninferiority Trial of Telephone Delivery of BRCA1/2 Genetic Counseling Compared With In-Person Counseling: 1-Year Follow-Up.

The ongoing integration of cancer genomic testing into routine clinical care has led to increased demand for cancer genetic services. To meet this demand, there is an urgent need to enhance the accessibility and reach of such services, while ensuring comparable care delivery outcomes. This randomized trial compared 1-year outcomes for telephone genetic counseling with in-person counseling among women at risk of hereditary breast and/or ovarian cancer living in geographically diverse areas. Using population-based sampling, women at increased risk of hereditary breast and/or ovarian cancer were randomly assigned to in-person (n = 495) or telephone genetic counseling (n = 493). One-sided 97.5% CIs were used to estimate the noninferiority effects of telephone counseling on 1-year psychosocial, decision-making, and quality-of-life outcomes. Differences in test-uptake proportions for determining equivalency of a 10% prespecified margin were evaluated by 95% CIs. At the 1-year follow-up, telephone counseling was noninferior to in-person counseling for all psychosocial and informed decision-making outcomes: anxiety (difference [d], 0.08; upper bound 97.5% CI, 0.45), cancer-specific distress (d, 0.66; upper bound 97.5% CI, 2.28), perceived personal control (d, -0.01; lower bound 97.5% CI, -0.06), and decisional conflict (d, -0.12; upper bound 97.5% CI, 2.03). Test uptake was lower for telephone counseling (27.9%) than in-person counseling (37.3%), with the difference of 9.4% (95% CI, 2.2% to 16.8%). Uptake was appreciably higher for rural compared with urban dwellers in both counseling arms. Although telephone counseling led to lower testing uptake, our findings suggest that telephone counseling can be effectively used to increase reach and access without long-term adverse psychosocial consequences. Further work is needed to determine long-term adherence to risk management guidelines and effective strategies to boost utilization of primary and secondary preventive strategies.

Patient and genetic counselor perceptions of in-person versus telephone genetic counseling for hereditary breast/ovarian cancer.

Telephone genetic counseling (TC) for high-risk women interested in BRCA1/2 testing has been shown to yield positive outcomes comparable to usual care (UC; in-person) genetic counseling. However, little is known about how genetic counselors perceive the delivery of these alternate forms of genetic counseling. As part of a randomized trial of TC versus UC, genetic counselors completed a 5-item genetic counselor process questionnaire (GCQ) assessing key elements of pre-test sessions (information delivery, emotional support, addressing questions and concerns, tailoring of session, and facilitation of decision-making) with the 479 female participants (TC, N=236; UC, N=243). The GCQ scores did not differ for TC vs. UC sessions (t (477)=0.11, p=0.910). However, multivariate analysis showed that participant race/ethnicity significantly predicted genetic counselor perceptions (β=0.172, p<0.001) in that the GCQ scores were lower for minorities in TC and UC. Exploratory analyses suggested that GCQ scores may be associated with patient preference for UC versus TC (t (79)=2.21, p=0.030). Additionally, we found that genetic counselor ratings of session effectiveness were generally concordant with patient perceptions of the session. These data indicate that genetic counselors perceive that key components of TC can be delivered as effectively as UC, and that these elements may contribute to specific aspects of patient satisfaction. However, undefined process differences may be present which account for lower counselor perceptions about the effectiveness of their sessions with minority women (i.e., those other than non-Hispanic Whites). We discuss other potential clinical and research implications of our findings.

Abstract OT2-05-01: BRCAsearch: A population based prospective study on screening for BRCA1 and BRCA2 germline mutations in patients with newly diagnosed breast cancer treated in southern Sweden

Abstract The overall purpose of the study BRCAsearch is to evaluate a new method for offering mutation analysis of BRCA1 and BRCA2 to all patients with newly diagnosed breast cancer. Patients with breast cancer in southern Sweden are offered inclusion in the SCAN-B study at the time of diagnosis pre-surgery. If they consent, a part of the tumor is sent to a lab in Lund, Sweden, for research purposes (RNA sequencing etc.). Patients that are included in the SCAN-B study are eligible for inclusion in BRCAsearch. Summary of study procedure for BRCAsearch: 1.An envelope with written information is given to the patient at the visit to the surgeon the week after surgery. This envelope contains a written genetic counseling, information about the study, an informed consent form, psychosocial questionnaires and contact information to a genetic counsellor and psycisians responsible for the study (telephone, e-mail). The patient can contact a genetic counselor for pre-test telephone genetic counseling if she wishes to. 2.BRCA1 and BRCA2 are analyzed. 3.Non-carriers are informed about the test result with a letter. Mutation carriers and VUS (variants of uncertain significance) are telephoned and given a time for an appointment at the Department of Clinical Genetics. 4.Psychosocial self-reported questionnaires are delivered at 3 times over a year. Inclusion criteria (all): 1.The patient is included in the SCAN-B study. 2.The patient is recently diagnosed with an invasive breast cancer or a ductal cancer in situ. 3.The patient has signed an informed consent form for BRCAsearch. Exclusion criteria (any of): 1.The patient is unable to understand the written information in Swedish. 2.The patient is a psychological state, due to chronic och temporary reasons, where one could suspect that information about the study substantially could be detrimental to the psychological well-beeing. Primary outcome measures: • Prevalence of BRCA1/2 mutations in an unselected breast cancer cohort in southern Sweden • Uptake of genetic testing • Proportion of the mutation carriers that do not fulfil current criteria for genetic testing Secondary outcome measures: • How many of the patients that contact us for questions and what type of questions they have • How uptake of genetic testing varies with patient, treatment, and tumor characteristics • The patients' attitudes towards the method used for identifying mutation carriers • The economic cost per QALY (quality-adjusted life year) • Psychosocial comparisons between mutation carriers and non-carriers Targeted accrual is 500 patients included in the study, which is expected to be reached by the end of 2016. The study enrolls patients from two hospitals in southern Sweden: 1.Helsingborg Hospital (study start: Febuary 2, 2015) 2.Kristianstad Hospital (study start: March 2, 2015). Citation Format: Nilsson MP, Borg Å, Henriksson K, Kristoffersson U, Kvist A, Silfverberg B, Törngren T, Loman N. BRCAsearch: A population based prospective study on screening for BRCA1 and BRCA2 germline mutations in patients with newly diagnosed breast cancer treated in southern Sweden. [abstract]. In: Proceedings of the Thirty-Eighth Annual CTRC-AACR San Antonio Breast Cancer Symposium: 2015 Dec 8-12; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2016;76(4 Suppl):Abstract nr OT2-05-01.

Telephone genetic counseling less costly in underserved areas

Telephone genetic counseling less costly in underserved areas

Patient Perceptions of Telephone vs. In-Person BRCA1/BRCA2 Genetic Counseling.

Telephone genetic counseling (TC) for hereditary breast/ovarian cancer risk has been associated with positive outcomes in high risk women. However, little is known about how patients perceive TC. As part of a randomized trial of TC versus usual care (UC; in-person genetic counseling), we compared high risk women's perceptions of: (1) overall satisfaction with genetic counseling; (2) convenience; (3) attentiveness during the session; (4) counselor effectiveness in providing support; and (5) counselor ability to recognize emotional responses during the session. Among the 554 participants (TC, N = 272; UC, N = 282), delivery mode was not associated with self-reported satisfaction. However, TC participants found counseling significantly more convenient than UC participants (OR = 4.78, 95% CI = 3.32, 6.89) while also perceiving lower levels of support (OR = 0.56, 95% CI = 0.40-0.80) and emotional recognition (OR = 0.53, 95% CI = 0.37-0.76). In exploratory analyses, we found that non-Hispanic white participants reported higher counselor support in UC than in TC (69.4% vs. 52.8%; OR = 3.06, 95% CI = 1.39-6.74), while minority women perceived less support in UC vs. TC (58.3% vs. 38.7%; OR = 0.80, 95% CI = 0.39-1.65). We discuss potential research and practice implications of these findings which may further improve the effectiveness and utilization of TC.

A Comparison of Telephone Genetic Counseling and In-Person Genetic Counseling from the Genetic Counselor's Perspective.

Growing demand for and limited geographic access to genetic counseling services is increasing the need for alternative service delivery models (SDM) like telephone genetic counseling (TGC). Little research has been done on genetic counselors' perspectives of the practice of TGC. We created an anonymous online survey to assess whether telephone genetic counselors believed the tasks identified in the ABGC (American Board of Genetic Counseling) Practice Analysis were performed similarly or differently in TGC compared to in person genetic counseling (IPGC). If there were differences noted, we sought to determine the nature of the differences and if additional training might be needed to address them. Eighty eight genetic counselors with experience in TGC completed some or all of the survey. Respondents identified differences in 13 (14.8%) of the 88 tasks studied. The tasks identified as most different in TGC were: "establishing rapport through verbal and nonverbal interactions" (60.2%; 50/83 respondents identified the task as different), "recognizing factors affecting the counseling interaction" (47.8%; 32/67), "assessing client/family emotions, support, etc." (40.1%; 27/66) and "educating clients about basic genetic concepts" (35.6%; 26/73). A slight majority (53.8%; 35/65) felt additional training was needed to communicate information without visual aids and more effectively perform psychosocial assessments. In summary, although a majority of genetic counseling tasks are performed similarly between TGC and IPGC, TGC counselors recognize that specific training in the TGC model may be needed to address the key differences.

Telemedicine uptake among Genetics Professionals in Europe: room for expansion.

Today's economic challenges and the changing landscape of clinical genetics are forcing us to consider alternative ways of providing genetic services, to comply with budget limitations and at the same time meeting the demands of increasing patient numbers and patient-centered care delivery. Telegenetics could be an effective and efficient way of counseling, but its use in Europe is not widely reported, nor is there evidence of international collaboration. We conducted an online survey among 929 genetics professionals, to explore the current availability and use of different telegenetics modalities in Europe. Our questionnaire was completed by 104 clinically active European genetics professionals. Telephone genetic counseling was used by 17% of respondents. Videoconferencing facilities were available to 24%, but only 9% of them used these for patient counseling. Various barriers to availability and use were cited, ranging from practical constraints, lack of professional support/knowledge, to lack of perceived suitability and need. The results show that telegenetics modalities are not currently in widespread use by our respondents, in part due to perceived barriers. To meet the changing economic, genetic, and societal circumstances, we recommend consideration of greater integration of telegenetics into regular clinical genetic care, to supplement existing care modalities. Professional cooperation, sharing knowledge, and establishing guidelines on a national and international level could contribute to successful and more widespread implementation of telegenetics. However, the perceived practical and regulatory barriers have to be overcome.

Disparities in uptake of BRCA1/2 genetic testing in a randomized trial of telephone counseling

PurposeAs genetic counseling and testing become more fully-integrated into clinical care, alternative delivery models are increasingly prominent. This study examines predictors of genetic testing for hereditary breast/ovarian cancer among high-risk women in a randomized trial of in-person vs. telephone-based genetic counseling.MethodsMethods include multivariable logistic regression and interaction analyses.ResultsOf the 669 participants, 600 completed counseling and 523 received test results. As previously reported, participants randomized to telephone counseling were significantly less likely to be tested. In intention to treat analyses, completion of counseling and testing was associated with: race/ethnicity (OR = 1.96, 95% CI: 1.20-3.20), , perceived stress (OR = 0.89, 95% CI: 0.81-0.98, knowledge (OR=1.12, 95% CI: 1.02-1.23), and randomization group (OR = 1.48, 95% CI: 1.01-2.16).. Further, race/ethnicity moderated the association between randomization group and testing, where minority women receiving telephone counseling were least likely to complete testing.ConclusionEvidence for logistical and communication-based explanations for this interaction are presented. The overall increased access made possible with telephone genetic counseling should be considered in light of the possibility that this may also lead to lower rates of testing among high-risk minority women. Additional care should be taken to assess and address potential barriers when services are delivered by phone.

Is It Time to Embrace Telephone Genetic Counseling in the Oncology Setting?

Is It Time to Embrace Telephone Genetic Counseling in the Oncology Setting?

Identification of Genetic Counseling Service Delivery Models in Practice: A Report from the NSGC Service Delivery Model Task Force

Increasing demand for genetic services has resulted in the need to evaluate current service delivery models (SDMs) and consider approaches that improve access to and efficiency of genetic counseling (GC). This study aimed to describe SDMs currently used by the GC community. The NSGC membership was surveyed regarding the use of four SDMs: in-person GC, telephone GC, group GC, and telegenetics GC. Variables related to access and components of use were also surveyed, including: appointment availability, time-per-patient, number of patients seen, billing, and geographic accessiblity. Seven hundred one usable responses were received. Of these, 54.7% reported using an in-person SDM exclusively. The remainder (45.3%) reported using multiple SDMs. Telephone, group and telegenetics GC were used often or always by 8.0%, 3.2% and 2.2% of respondents, respectively. Those using an in-person SDM reported the ability to see the highest number of patients per week (p < 0.0001) and were the most likely to bill in some manner (p < 0.0001). Those using telegenetic and telephone GC served patients who lived the furthest away, with 48.3% and 35.8%% respectively providing GC to patients who live >4h away. This study shows that genetic counselors are incorporating SDMs other than traditional in-person genetic counseling, and are utilizing more than one model. These adaptations show a trend toward shorter wait time and shorter length of appointments. Further study is indicated to analyze benefits and limitations of each individual model and factors influencing the choice to adopt particular models into practice.

590: Successfully overcoming barriers to genetic counseling through national telephone genetic counseling service

589 First-trimester prediction of preeclampsia using soluble P-selectin,follistatin-related protein 3, complement 3a, soluble TNF receptor type 1, PAPP-A, AFP, inhibin A, placental growth factor, uterine artery Doppler and maternal characteristics Lorraine Dugoff, Howard Cuckle, Nicholas Behrendt, Darleen Cioffi-Ragan, Leslie Myers, John Hobbins University of Pennsylvania, Obstetrics and Gynecology, Philadelphia, PA, Columbia University Medical Center, Obstetrics and Gynecology, New York, NY, University of Colorado, Obstetrics and Gynecology, Aurora, CO OBJECTIVE: To estimate the efficiency of first-trimester serum markers and uterine artery Doppler (UtA) in the prediction of severe preeclampsia (SPE). STUDY DESIGN: This is a prospective cohort study of patients presenting for aneuploidy screening between 11-14 weeks’ gestation. Maternal serum levels of soluble P-selectin, follistatin-related protein 3, complement 3a, soluble TNF receptor type 1, PAPP-A, AFP, inhibin A(inhA) and placental growth factor(PlGF) were measured by immunoassay and mean UtA resistance indices(RI) were calculated. The primary outcome was SPE. A secondary outcome of all PE including mild preeclampsia was also evaluated. Marker levels were expressed in multiples of the normal median (MOM), adjusting for gestation, weight, smoking and ethnicity. Logistic regression analysis was used to model performance. Maternal characteristics identified as significant in a univariate analysis were included in the models. Predicted sensitivity, specificity, and area under the receiver-operating characteristic curves were used to compare the screening efficiency of the models. RESULTS: Of 1028 patients, 26(2.5%) had SPE and 56(5.4%) had PE. Median PlGF levels were lower in patients with SPE (0.83 MoM vs 0.98 MoM, P 0.05) and PE(0.90 MoM vs 0.98 MoM, P 0.05) compared to those without PE. AFP was significantly higher (1.15 MoM vs 1.00 MoM, P 0.05; 1.20 MoM vs 0.99 MoM, P 0.01). Median RI was significantly increased in PE (1.05 MoM vs 1.00 MoM, P 0.05) but not in SPE; similarly for inhA (1.09 MoM vs 0.99 MoM, P 0.05). For a fixed false positive rate of 20%, PlGF and AFP identified 49% of patients with SPE; combining these with prior risk factors did not improve the model efficiency. The detection rate for PE was 44% modeling with PlGF, AFP, inhA and RI. CONCLUSION: First-trimester PlGF and AFP are each modestly predictive of SPE, but combining both improves detection.

National telephone genetic counseling service supports informed and timely decisions in reproductive medicine

This study evaluates delivery of telephone genetic counseling (GC) for reproductive indications to increase access to genetics specialists and compliance with the current and growing body of national recommendations for GC in reproductive medicine.

P2-13-09: First Statewide Experience with Telephone Delivery of Cancer Genetic Counseling.

Abstract Background: National guidelines and multiple professional medical societies recommend genetic counseling as the standard of care for women with a personal and/or family history suggestive of a hereditary cancer syndrome. In addition, the ability to provide risk assessment and genetic counseling is a requirement for accreditation of breast centers by organizations such as the National Accreditation Program for Breast Centers (NAPBC) and the Commission on Cancer. However, there is clear evidence that this standard is not being achieved. Many individuals are undergoing genetic testing for these syndromes without adequate pre- and post-test counseling and, on the other hand, many individuals who are appropriate for genetic testing are not being identified and referred for genetic counseling and therefore not receiving potentially life-saving genetic information and services. A number of factors have been identified as contributors to these poor public health outcomes, including a lack of available genetic counseling services due to a limited number of trained genetics professionals and their limited geographic distribution. Research has demonstrated the effectiveness of cancer genetic counseling delivered by telephone, but to date, almost no real-world experience has been reported. We provided statewide access to board-certified genetic counselors via telephone in Michigan beginning in February 2010 and report our experience with the first 200 patients at risk for hereditary breast and ovarian cancer. Materials and Methods: Baseline data were analyzed for all Michigan patients undergoing telephone genetic counseling through Informed Medical Decisions since service delivery began in February 2010. Variables include demographics, geographic location, personal cancer history, family cancer history, Gail risk and test appropriateness criteria. Results: Analysis has been completed on the first 200 patients referred for consideration of hereditary breast and ovarian cancer. Outcomes include testing, results and, where applicable, reasons testing was not pursued, patient and provider satisfaction, as well as trends over time in patient volumes, providers using the service and uptake by geographic location. Conclusion: Based on statewide experience in Michigan, telephone cancer genetic counseling is a viable method for service delivery in the real world. The Michigan experience can serve as a cost-effective model for improving genetic services in other locations with limited access to genetic experts. Citation Information: Cancer Res 2011;71(24 Suppl):Abstract nr P2-13-09.

Impact of presymptomatic genetic testing for familial amyotrophic lateral sclerosis

PurposeThe Pre-familial Amyotrophic Lateral Sclerosis (Pre-fALS) study is a longitudinal study of individuals potentially at risk for developing familial amyotrophic lateral sclerosis. Our goals were to (1) explore participants' decisions of whether to learn results of presymptomatic testing or not; (2) understand the psychosocial impact of these decisions; and (3) assess preferences for receiving results by telephone or in person. MethodsThe sample for this substudy comprised 20 participants drawn randomly from autosomal dominant mutant superoxide dismutase 1 families in the Pre-fALS study. Twenty participants completed a semistructured phone interview; prominent themes were identified and rated. ResultsFourteen participants chose to learn results; six had mutant superoxide dismutase 1 and eight had wild-type superoxide dismutase 1. Of the six who initially elected nondisclosure, three were reconsidering their decision. Regardless of the results and method of counseling, participants had adapted well, at least in the short term. ConclusionWe recommend that (1) those considering presymptomatic genetic testing should undergo professional counseling to help decide whether to learn results; (2) discussion should include the option of telephone genetic counseling for those without easy access to in-person counseling; and (3) those who initially decline to learn results should be offered the opportunity to learn their mutation status as their decision evolves. Genet Med 2011:13(4):342–348.

Abstract A34: Short-term evaluation of telephone-based genetic counseling for hereditary breast and ovarian cancer among African American women: A pilot study

Abstract Introduction: Genetic counseling (GC) services for inherited breast and ovarian cancer (HBOC) are underutilized by African American (AA) women. One barrier may be availability of in-person GC services. Telephone-based counseling may be one way to increase access to GC services. However, little is known about AA women's reactions to and satisfaction with phone-based GC services. We sought to evaluate experiences associated with phone-based GC for HBOC among AA women diagnosed with early-onset breast cancer. Methods: Through a cancer registry-based study, phone-based GC for HBOC was provided to AA women diagnosed with breast cancer at or before age 50. A brief baseline survey to evaluate the experience with the GC and testing process was administered when women were being scheduled to receive results of BRCA testing. After phone-based results disclosure with a genetic counselor, a follow-up phone survey was administered to assess results disclosure experiences. Results: To date, baseline and follow-up surveys have been completed by 33 (72%) of 46 women who completed pre-test GC. Findings from the baseline questionnaire (n=36) showed that the majority of women were glad to have pursued testing (95%), felt that they had taken charge of their healthcare (90%), and were pleased with the telephone GC provided through the study (71 %). Almost 40% of participants indicated that the GC and testing process increased their feelings of control and empowerment. Among the follow-up survey participants (n=33), the majority indicated very positive experiences with various aspects of phone-based results disclosure. Conclusion: Our results suggest that telephone-based GC and testing for HBOC in a registry-based sample of AA women was perceived favorably by participants. Thus, telephone-based GC may be one approach to reduce barriers in access to GC and testing services in the AA community. Citation Information: Cancer Epidemiol Biomarkers Prev 2010;19(10 Suppl):A34.