Publications by authors named "Andrea Forman"

29 Publications

  • Page 1 of 1

Compassionate Removal of Heated High-Flow Nasal Cannula for End of Life: Case Series and Protocol Development.

J Hosp Palliat Nurs 2021 08;23(4):360-366

Patients often receive burdensome care at the end of life in the form of interventions that may need to be removed. Heated high-flow oxygen delivered through a nasal cannula (HHFNC) is one such intervention that can be delivered in the hospital yet is rarely available outside of this setting. During the COVID-19 (coronavirus disease 2019) pandemic, health care systems continue to face the possibility of rationing critical life-sustaining equipment that may include HHFNC. We present a clinical protocol designed for weaning HHFNC to allow a natural death and ensuring adequate symptom management throughout the process. This was a retrospective chart review of 8 patients seen by an inpatient palliative care service of an academic tertiary referral hospital who underwent terminal weaning of HHFNC using a structured protocol to manage dyspnea. Eight patients with diverse medical diagnoses, including COVID-19 pneumonia, underwent terminal weaning of HHFNC according to the clinical protocol with 4 down-titrations of approximately 25% for both fraction of inspired oxygen and liter flow with preemptive boluses of opioid and benzodiazepine. Clinical documentation supported good symptom control throughout the weaning process. This case series provides preliminary evidence that the clinical protocol proposed has the ability to ensure comfort through terminal weaning of HHFNC.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1097/NJH.0000000000000769DOI Listing
August 2021

Prevalence of pathogenic variants in DNA damage response and repair genes in patients undergoing cancer risk assessment and reporting a personal history of early-onset renal cancer.

Sci Rep 2020 08 11;10(1):13518. Epub 2020 Aug 11.

Cancer Prevention and Control Program, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA, 19111-2497, USA.

Pathogenic variants (PVs) in multiple genes are known to increase the risk of early-onset renal cancer (eoRC). However, many eoRC patients lack PVs in RC-specific genes; thus, their genetic risk remains undefined. Here, we determine if PVs in DNA damage response and repair (DDRR) genes are enriched in eoRC patients undergoing cancer risk assessment. Retrospective review of de-identified results from 844 eoRC patients, undergoing testing with a multi-gene panel, for a variety of indications, by Ambry Genetics. PVs in cancer-risk genes were identified in 12.8% of patients-with 3.7% in RC-specific, and 8.55% in DDRR genes. DDRR gene PVs were most commonly identified in CHEK2, BRCA1, BRCA2, and ATM. Among the 2.1% of patients with a BRCA1 or BRCA2 PV, < 50% reported a personal history of hereditary breast or ovarian-associated cancer. No association between age of RC diagnosis and prevalence of PVs in RC-specific or DDRR genes was observed. Additionally, 57.9% patients reported at least one additional cancer; breast cancer being the most common (40.1% of females, 2.5% of males). Multi-gene testing including DDRR genes may provide a more comprehensive risk assessment in eoRC patients. Further validation is needed to characterize the association with eoRC.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41598-020-70449-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7419503PMC
August 2020

Longitudinal follow-up after telephone disclosure in the randomized COGENT study.

Genet Med 2020 08 7;22(8):1401-1406. Epub 2020 May 7.

Department of Medicine, Division of Hematology-Oncology, University of Pennsylvania, Philadelphia, PA, USA.

Purpose: To better understand the longitudinal risks and benefits of telephone disclosure of genetic test results in the era of multigene panel testing.

Methods: Adults who were proceeding with germline cancer genetic testing were randomized to telephone disclosure (TD) with a genetic counselor or in-person disclosure (IPD) (i.e., usual care) of test results. All participants who received TD were recommended to return to meet with a physician to discuss medical management recommendations.

Results: Four hundred seventy-three participants were randomized to TD and 497 to IPD. There were no differences between arms for any cognitive, affective, or behavioral outcomes at 6 and 12 months. Only 50% of participants in the TD arm returned for the medical follow-up appointment. Returning was associated with site (p < 0.0001), being female (p = 0.047), and not having a true negative result (p < 0.002). Mammography was lower at 12 months among those who had TD and did not return for medical follow-up (70%) compared with those who had TD and returned (86%) and those who had IPD (87%, adjusted p < 0.01).

Conclusion: Telephone disclosure of genetic test results is a reasonable alternative to in-person disclosure, but attention to medical follow-up may remain important for optimizing appropriate use of genetic results.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-020-0808-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7396300PMC
August 2020

Tumor-Based Genetic Testing and Familial Cancer Risk.

Cold Spring Harb Perspect Med 2020 08 3;10(8). Epub 2020 Aug 3.

Center for Cancer Genetics and Prevention, Dana Farber Cancer Institute, Boston, Massachusetts 02215, USA.

As genetic testing on somatic tumor tissue becomes a more routine part of personalized cancer treatment, a growing opportunity arises to identify hereditary germline variants within those results. These germline results can affect future cancer screening for both patients and their family members. Finding this germline information can be complicated as a result of differences between somatic and germline testing processes, nomenclature, and outcome goals (e.g., treatment impact). The goal of this review is to highlight differences between somatic and germline testing and outline a potential guide to allow for appropriate clinical interpretation of somatic testing results in order to better facilitate genetic counseling referrals and confirmatory germline testing.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1101/cshperspect.a036590DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7397843PMC
August 2020

Guidelines-Based Cancer Risk Assessment.

Semin Oncol Nurs 2019 02 22;35(1):34-46. Epub 2019 Jan 22.

Objective: To build skills related to cancer risk assessment including: identification of elevated personal or hereditary cancer risks, incorporation of cancer risk models into clinical care, and reviewing elements of cancer risk education and informed consent.

Data Sources: Consensus and professional guidelines and published literature.

Conclusion: Applying consensus guidelines to cancer risk education, along with building partnerships with other providers, is essential for oncology nurses and will ensure proper patient care and follow-up.

Implications For Nursing Practice: Oncology nursing has embraced advances in genetics and genomics and developed standards of practice that include genetics and genomics competency.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.soncn.2018.12.010DOI Listing
February 2019

Interaction of germline variants in a family with a history of early-onset clear cell renal cell carcinoma.

Mol Genet Genomic Med 2019 03 24;7(3):e556. Epub 2019 Jan 24.

Cancer Prevention and Control Program, Fox Chase Cancer Center, Philadelphia, Pennsylvania.

Background: Identification of genetic factors causing predisposition to renal cell carcinoma has helped improve screening, early detection, and patient survival.

Methods: We report the characterization of a proband with renal and thyroid cancers and a family history of renal and other cancers by whole-exome sequencing (WES), coupled with WES analysis of germline DNA from additional affected and unaffected family members.

Results: This work identified multiple predicted protein-damaging variants relevant to the pattern of inherited cancer risk. Among these, the proband and an affected brother each had a heterozygous Ala45Thr variant in SDHA, a component of the succinate dehydrogenase (SDH) complex. SDH defects are associated with mitochondrial disorders and risk for various cancers; immunochemical analysis indicated loss of SDHB protein expression in the patient's tumor, compatible with SDH deficiency. Integrated analysis of public databases and structural predictions indicated that the two affected individuals also had additional variants in genes including TGFB2, TRAP1, PARP1, and EGF, each potentially relevant to cancer risk alone or in conjunction with the SDHA variant. In addition, allelic imbalances of PARP1 and TGFB2 were detected in the tumor of the proband.

Conclusion: Together, these data suggest the possibility of risk associated with interaction of two or more variants.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.556DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418363PMC
March 2019

Preferences for in-person disclosure: Patients declining telephone disclosure characteristics and outcomes in the multicenter Communication Of GENetic Test Results by Telephone study.

Clin Genet 2019 02 7;95(2):293-301. Epub 2018 Dec 7.

Division of Hematology-Oncology, Department of Medicine, The University of Chicago, Chicago, Illinois.

Telephone disclosure of cancer genetic test results is noninferior to in-person disclosure. However, how patients who prefer in-person communication of results differ from those who agree to telephone disclosure is unclear but important when considering delivery models for genetic medicine. Patients undergoing cancer genetic testing were recruited to a multicenter, randomized, noninferiority trial (NCT01736345) comparing telephone to in-person disclosure of genetic test results. We evaluated preferences for in-person disclosure, factors associated with this preference and outcomes compared to those who agreed to randomization. Among 1178 enrolled patients, 208 (18%) declined randomization, largely given a preference for in-person disclosure. These patients were more likely to be older (P = 0.007) and to have had multigene panel testing (P < 0.001). General anxiety (P = 0.007), state anxiety (P = 0.008), depression (P = 0.011), cancer-specific distress (P = 0.021) and uncertainty (P = 0.03) were higher after pretest counseling. After disclosure of results, they also had higher general anxiety (P = 0.003), depression (P = 0.002) and cancer-specific distress (P = 0.043). While telephone disclosure is a reasonable alternative to in-person disclosure in most patients, some patients have a strong preference for in-person communication. Patient age, distress and complexity of testing are important factors to consider and requests for in-person disclosure should be honored when possible.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1111/cge.13474DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6453119PMC
February 2019

Randomized Noninferiority Trial of Telephone vs In-Person Disclosure of Germline Cancer Genetic Test Results.

J Natl Cancer Inst 2018 09;110(9):985-993

Division of Hematology-Oncology and Section of Gastroenterology, Hepatology, and Nutrition, Department of Medicine, and Center for Clinical Cancer Genetics and Global Health, The University of Chicago, Chicago, IL.

Background: Germline genetic testing is standard practice in oncology. Outcomes of telephone disclosure of a wide range of cancer genetic test results, including multigene panel testing (MGPT) are unknown.

Methods: Patients undergoing cancer genetic testing were recruited to a multicenter, randomized, noninferiority trial (NCT01736345) comparing telephone disclosure (TD) of genetic test results with usual care, in-person disclosure (IPD) after tiered-binned in-person pretest counseling. Primary noninferiority outcomes included change in knowledge, state anxiety, and general anxiety. Secondary outcomes included cancer-specific distress, depression, uncertainty, satisfaction, and screening and risk-reducing surgery intentions. To declare noninferiority, we calculated the 98.3% one-sided confidence interval of the standardized effect; t tests were used for secondary subgroup analyses. Only noninferiority tests were one-sided, others were two-sided.

Results: A total of 1178 patients enrolled in the study. Two hundred eight (17.7%) participants declined random assignment due to a preference for in-person disclosure; 473 participants were randomly assigned to TD and 497 to IPD; 291 (30.0%) had MGPT. TD was noninferior to IPD for general and state anxiety and all secondary outcomes immediately postdisclosure. TD did not meet the noninferiority threshold for knowledge in the primary analysis, but it did meet the threshold in the multiple imputation analysis. In secondary analyses, there were no statistically significant differences between arms in screening and risk-reducing surgery intentions, and no statistically significant differences in outcomes by arm among those who had MGPT. In subgroup analyses, patients with a positive result had statistically significantly greater decreases in general anxiety with telephone disclosure (TD -0.37 vs IPD +0.87, P = .02).

Conclusions: Even in the era of multigene panel testing, these data suggest that telephone disclosure of cancer genetic test results is as an alternative to in-person disclosure for interested patients after in-person pretest counseling with a genetic counselor.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1093/jnci/djy015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6136932PMC
September 2018

Clinical testing of and : a worldwide snapshot of technological practices.

NPJ Genom Med 2018 15;3. Epub 2018 Feb 15.

15National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 USA.

Clinical testing of and began over 20 years ago. With the expiration and overturning of the patents, limitations on which laboratories could offer commercial testing were lifted. These legal changes occurred approximately the same time as the widespread adoption of massively parallel sequencing (MPS) technologies. Little is known about how these changes impacted laboratory practices for detecting genetic alterations in hereditary breast and ovarian cancer genes. Therefore, we sought to examine current laboratory genetic testing practices for /. We employed an online survey of 65 questions covering four areas: laboratory characteristics, details on technological methods, variant classification, and client-support information. Eight United States (US) laboratories and 78 non-US laboratories completed the survey. Most laboratories (93%; 80/86) used MPS platforms to identify variants. Laboratories differed widely on: (1) technologies used for large rearrangement detection; (2) criteria for minimum read depths; (3) non-coding regions sequenced; (4) variant classification criteria and approaches; (5) testing volume ranging from 2 to 2.5 × 10 tests annually; and (6) deposition of variants into public databases. These data may be useful for national and international agencies to set recommendations for quality standards for clinical testing. These standards could also be applied to testing of other disease genes.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41525-018-0046-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5814433PMC
February 2018

Use and Patient-Reported Outcomes of Clinical Multigene Panel Testing for Cancer Susceptibility in the Multicenter Communication of Genetic Test Results by Telephone Study.

JCO Precis Oncol 2018 18;2. Epub 2018 Dec 18.

University of Pennsylvania.

Purpose: Multigene panels (MGPs) are increasingly being used despite questions regarding their clinical utility and no standard approach to genetic counseling. How frequently genetic providers use MGP testing and how patient-reported outcomes (PROs) differ from targeted testing (eg, only) are unknown.

Methods: We evaluated use of MGP testing and PROs in participants undergoing cancer genetic testing in the multicenter Communication of Genetic Test Results by Telephone study (ClinicalTrials.gov identifier: ), a randomized study of telephone versus in-person disclosure of genetic test results. PROs included genetic knowledge, general and state anxiety, depression, cancer-specific distress, uncertainty, and satisfaction. Genetic providers offered targeted or MGP testing based on clinical assessment.

Results: Since the inclusion of MGP testing in 2014, 395 patients (66%) were offered MGP testing. MGP testing increased over time from 57% in 2014 to 66% in 2015 ( = .02) and varied by site (46% to 78%; < .01). Being offered MGP testing was significantly associated with not having Ashkenazi Jewish ancestry, having a history of cancer, not having a mutation in the family, not having made a treatment decision, and study site. After demographic adjustment, patients offered MGP testing had lower general anxiety ( = .04), state anxiety ( = .03), depression ( = .04), and uncertainty ( = .05) pre-disclosure compared with patients offered targeted testing. State anxiety ( = .05) and cancer-specific distress ( = .05) were lower at disclosure in the MGP group. There was a greater increase in change in uncertainty ( = .04) among patients who underwent MGP testing.

Conclusion: MGP testing was more frequently offered to patients with lower anxiety, depression, and uncertainty and was associated with favorable outcomes, with the exception of a greater increase in uncertainty compared with patients who had targeted testing. Addressing uncertainty may be important as MGP testing is increasingly adopted.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1200/PO.18.00199DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6901130PMC
December 2018

The Hereditary Paraganglioma-Pheochromocytoma Syndrome: No Time to Waste.

JAMA Oncol 2017 12;3(12):1739-1740

Risk Assessment Program, Fox Chase Cancer Center, Philadelphia, Pennsylvania

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1001/jamaoncol.2017.1750DOI Listing
December 2017

Inherited Mutations in Men Undergoing Multigene Panel Testing for Prostate Cancer: Emerging Implications for Personalized Prostate Cancer Genetic Evaluation.

JCO Precis Oncol 2017 May 4;1. Epub 2017 May 4.

, , , , , , , , , and , Thomas Jefferson University; , , , , , , and , Fox Chase Cancer Center, Philadelphia, PA; and , Myriad Genetics, Salt Lake City, UT.

Purpose: Multigene panels are commercially available for the evaluation of prostate cancer (PCA) predisposition, which necessitates tailored genetic counseling (GC) for men. Here we describe emerging results of Genetic Evaluation of Men, prospective multigene testing study in PCA to inform personalized genetic counseling, with emerging implications for referrals, cancer screening, and precision therapy.

Patients And Methods: Eligibility criteria for men affected by or at high risk for PCA encompass age, race, family history (FH), and PCA stage/grade. Detailed demographic, clinical, and FH data were obtained from participants and medical records. Multigene testing was conducted after GC. Mutation rates were summarized by eligibility criteria and compared across FH data. The 95% CI of mutation prevalence was constructed by using Poisson distribution.

Results: Of 200 men enrolled, 62.5% had PCA. Eleven (5.5%; 95% CI, 3.0% to 9.9%) had mutations; 63.6% of mutations were in DNA repair genes. FH of breast cancer was significantly associated with mutation status ( = .004), and FH that met criteria for hereditary breast and ovarian cancer syndrome was significantly associated with PCA (odds ratio, 2.33; 95% CI, 1.05 to 5.18). Variants of uncertain significance were reported in 70 men (35.0%). Among mutation carriers, 45.5% had personal/FH concordant with the gene. A tailored GC model was developed based on emerging findings.

Conclusion: Multigene testing for PCA identifies mutations mostly in DNA repair genes, with implications for precision therapy. The study highlights the importance of comprehensive genetic evaluation for PCA beyond metastatic disease, including early-stage disease with strong FH. Detailed FH is important for referrals of men for genetic evaluation. The results inform precision GC and cancer screening for men and their male and female blood relatives.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1200/PO.16.00039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8210976PMC
May 2017

The Relevance of Hereditary Cancer Risks to Precision Oncology: What Should Providers Consider When Conducting Tumor Genomic Profiling?

J Natl Compr Canc Netw 2016 06;14(6):795-806

Fox Chase Cancer Center, Philadelphia Pennsylvania

Through tumor genomic profiling (TGP), existing and novel treatments can be selected to better target the specific dysregulated molecular pathways that drive growth and spread of a patient's tumor. Although the primary purpose of TGP is to detect targetable somatic mutations for treatment, TGP may also uncover germline mutations with important implications for patients and family members. Oncology care providers should be aware of the hereditary cancer risks associated with genes commonly tested by TGP. Further, patients should be informed about the possible discovery of hereditary cancer risk information and the relevance of this information to their health and that of family members, and should have their preferences toward further evaluation of hereditary risk information that could be revealed by TGP documented in the medical record and followed.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.6004/jnccn.2016.0080DOI Listing
June 2016

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

Fam Cancer 2016 10;15(4):529-39

Department of Oncology, Lombardi Comprehensive Cancer Center, Jess and Mildred Fisher Center for Hereditary Cancer and Clinical Genomics Research, Georgetown University Medical Center, 3300 Whitehaven Street, NW, Suite 4100, Washington, DC, 20007, USA.

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.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10689-016-9900-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011450PMC
October 2016

Utilizing Remote Real-Time Videoconferencing to Expand Access to Cancer Genetic Services in Community Practices: A Multicenter Feasibility Study.

J Med Internet Res 2016 Feb 1;18(2):e23. Epub 2016 Feb 1.

Division of Hematology-Oncology, Department of Medicine, The University of Pennsylvania, Philadelphia, PA, United States.

Background: Videoconferencing has been used to expand medical services to low-access populations and could increase access to genetic services at community sites where in-person visits with genetic providers are not available.

Objective: To evaluate the feasibility of, patient feedback of, and cognitive and affective responses to remote two-way videoconferencing (RVC) telegenetic services at multiple sociodemographically diverse community practices without access to genetic providers.

Methods: Patients at 3 community sites in 2 US states outside the host center completed RVC pretest (visit 1, V1) and post-test (visit 2, V2) genetic counseling for cancer susceptibility. Surveys evaluated patient experiences, knowledge, satisfaction with telegenetic and cancer genetics services, anxiety, depression, and cancer worry.

Results: A total of 82 out of 100 (82.0%) approached patients consented to RVC services. A total of 61 out of 82 patients (74%) completed pretest counseling and 41 out of 61 (67%) proceeded with testing and post-test counseling. A total of 4 out of 41 (10%) mutation carriers were identified: BRCA2, MSH2, and PMS2. Patients reported many advantages (eg, lower travel burden and convenience) and few disadvantages to RVC telegenetic services. Most patients reported feeling comfortable with the video camera--post-V1: 52/57 (91%); post-V2: 39/41 (95%)--and that their privacy was respected--post-V1: 56/57 (98%); post-V2: 40/41 (98%); however, some reported concerns that RVC might increase the risk of a confidentiality breach of their health information--post-V1: 14/57 (25%); post-V2: 12/41 (29%). While the majority of patients reported having no trouble seeing or hearing the genetic counselor--post-V1: 47/57 (82%); post-V2: 39/41 (95%)--51 out of 98 (52%) patients reported technical difficulties. Nonetheless, all patients reported being satisfied with genetic services. Compared to baseline, knowledge increased significantly after pretest counseling (+1.11 mean score, P=.005); satisfaction with telegenetic (+1.74 mean score, P=.02) and genetic services (+2.22 mean score, P=.001) increased after post-test counseling. General anxiety and depression decreased after pretest (-0.97 mean anxiety score, P=.003; -0.37 mean depression score, P=.046) and post-test counseling (-1.13 mean anxiety score, P=.003; -0.75 mean depression score, P=.01); state anxiety and cancer-specific worry did not significantly increase.

Conclusions: Remote videoconferencing telegenetic services are feasible, identify genetic carriers in community practices, and are associated with high patient satisfaction and favorable cognitive and affective outcomes, suggesting an innovative delivery model for further study to improve access to genetic providers and services. Potential barriers to dissemination include technology costs, unclear billing and reimbursement, and state requirements for provider licensure.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.2196/jmir.4564DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4754531PMC
February 2016

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

J Genet Couns 2016 06 12;25(3):472-82. Epub 2015 Oct 12.

Department of Oncology, Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC, USA.

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.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10897-015-9897-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4829475PMC
June 2016

Development of a communication protocol for telephone disclosure of genetic test results for cancer predisposition.

JMIR Res Protoc 2014 Oct 29;3(4):e49. Epub 2014 Oct 29.

Department of Medicine, Division of Hematology-Oncology, Center for Clinical Cancer Genetics and Global Health, University of Chicago, Chicago, IL, United States.

Background: Dissemination of genetic testing for disease susceptibility, one application of "personalized medicine", holds the potential to empower patients and providers through informed risk reduction and prevention recommendations. Genetic testing has become a standard practice in cancer prevention for high-risk populations. Heightened consumer awareness of "cancer genes" and genes for other diseases (eg, cardiovascular and Alzheimer's disease), as well as the burgeoning availability of increasingly complex genomic tests (ie, multi-gene, whole-exome and -genome sequencing), has escalated interest in and demand for genetic risk assessment and the specialists who provide it. Increasing demand is expected to surpass access to genetic specialists. Thus, there is urgent need to develop effective and efficient models of delivery of genetic information that comparably balance the risks and benefits to the current standard of in-person communication.

Objective: The aim of this pilot study was to develop and evaluate a theoretically grounded and rigorously developed protocol for telephone communication of BRCA1/2 (breast cancer) test results that might be generalizable to genetic testing for other hereditary cancer and noncancer syndromes.

Methods: Stakeholder data, health communication literature, and our theoretical model grounded in Self-Regulation Theory of Health Behavior were used to develop a telephone communication protocol for the communication of BRCA1/2 genetic test results. Framework analysis of selected audiotapes of disclosure sessions and stakeholders' feedback were utilized to evaluate the efficacy and inform refinements to this protocol.

Results: Stakeholder feedback (n=86) and audiotapes (38%, 33/86) of telephone disclosures revealed perceived disadvantages and challenges including environmental factors (eg, non-private environment), patient-related factors (eg, low health literacy), testing-related factors (eg, additional testing needed), and communication factors (eg, no visual cues). Resulting modifications to the communication protocol for BRCA1/2 test results included clarified patient instructions, scheduled appointments, refined visual aids, expanded disclosure checklist items, and enhanced provider training.

Conclusions: Analyses of stakeholders' experiences and audiotapes of telephone disclosure of BRCA1/2 test results informed revisions to communication strategies and a protocol to enhance patient outcomes when utilizing telephone to disclose genetic test results.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.2196/resprot.3337DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259920PMC
October 2014

Development of a tiered and binned genetic counseling model for informed consent in the era of multiplex testing for cancer susceptibility.

Genet Med 2015 Jun 9;17(6):485-92. Epub 2014 Oct 9.

1] Abramson Cancer Center, University of Pennsylvania, Philadelphia, Pennsylvania, USA [2] Department of Translational Medicine and Human Genetics, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

Purpose: Multiplex genetic testing, including both moderate- and high-penetrance genes for cancer susceptibility, is associated with greater uncertainty than traditional testing, presenting challenges to informed consent and genetic counseling. We sought to develop a new model for informed consent and genetic counseling for four ongoing studies.

Methods: Drawing from professional guidelines, literature, conceptual frameworks, and clinical experience, a multidisciplinary group developed a tiered-binned genetic counseling approach proposed to facilitate informed consent and improve outcomes of cancer susceptibility multiplex testing.

Results: In this model, tier 1 "indispensable" information is presented to all patients. More specific tier 2 information is provided to support variable informational needs among diverse patient populations. Clinically relevant information is "binned" into groups to minimize information overload, support informed decision making, and facilitate adaptive responses to testing. Seven essential elements of informed consent are provided to address the unique limitations, risks, and uncertainties of multiplex testing.

Conclusion: A tiered-binned model for informed consent and genetic counseling has the potential to address the challenges of multiplex testing for cancer susceptibility and to support informed decision making and adaptive responses to testing. Future prospective studies including patient-reported outcomes are needed to inform how to best incorporate multiplex testing for cancer susceptibility into clinical practice.Genet Med 17 6, 485-492.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2014.134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4983405PMC
June 2015

Gene panel testing for inherited cancer risk.

J Natl Compr Canc Netw 2014 Sep;12(9):1339-46

From Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, Pennsylvania; Department of Internal Medicine, Division of Human Genetics, Ohio State University Comprehensive Cancer Center, Columbus, Ohio; Clinical and Translational Hereditary Cancer Program, Vanderbilt-Ingram Cancer Center, Nashville, Tennessee; and Division of Population Science, Department of Medical Oncology, Thomas Jefferson University, Philadelphia, Pennsylvania.

Next-generation sequencing technologies have ushered in the capability to assess multiple genes in parallel for genetic alterations that may contribute to inherited risk for cancers in families. Thus, gene panel testing is now an option in the setting of genetic counseling and testing for cancer risk. This article describes the many gene panel testing options clinically available to assess inherited cancer susceptibility, the potential advantages and challenges associated with various types of panels, clinical scenarios in which gene panels may be particularly useful in cancer risk assessment, and testing and counseling considerations. Given the potential issues for patients and their families, gene panel testing for inherited cancer risk is recommended to be offered in conjunction or consultation with an experienced cancer genetic specialist, such as a certified genetic counselor or geneticist, as an integral part of the testing process.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.6004/jnccn.2014.0128DOI Listing
September 2014

Understanding patient and provider perceptions and expectations of genomic medicine.

J Surg Oncol 2015 Jan 3;111(1):9-17. Epub 2014 Jul 3.

Fox Chase Cancer Center, Philadelphia, Pennsylvania.

Advances in genome sequencing technology have fostered a new era of clinical genomic medicine. Genetic counselors, who have begun to support patients undergoing multi-gene panel testing for hereditary cancer risk, will review brief clinical vignettes, and discuss early experiences with clinical genomic testing. Their experiences will frame a discussion about how current testing may challenge patient understanding and expectations toward the evaluation of cancer risk and downstream preventive behaviors.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/jso.23712DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4286413PMC
January 2015

An investigation of genetic counselors' testing recommendations: pedigree analysis and the use of multiplex breast cancer panel testing.

J Genet Couns 2014 Aug 27;23(4):618-32. Epub 2014 Feb 27.

Genetic Counseling Program, Arcadia University, 450 S Easton Rd, Glenside, PA, 19038, USA,

Genetic testing recommendations for hereditary breast and ovarian cancer involve pedigree analysis and consultation of testing guidelines. The testing landscape for hereditary cancer syndromes is shifting as multiplex panel tests become more widely integrated into clinical practice. The purpose of the current study was to assess how genetic counselors utilize pedigrees to make recommendations for genetic testing, to determine consistency of these recommendations with National Comprehensive Cancer Network (NCCN) Guidelines and to explore current use of multiplex panel testing. Sixty-nine genetic counselors were recruited through the National Society of Genetic Counselors Cancer Special Interest Group's Discussion Forum. Participation involved pedigree analysis and completion of an online questionnaire assessing testing recommendations and use of multiplex panel testing. Pedigree analysis and test recommendations were scored for consistency with NCCN guidelines. The average score was 12.83/15 indicating strong consistency with NCCN guidelines. Participants were more likely to consider multiplex testing when pedigrees demonstrated highly penetrant dominant inheritance but were not indicative of a particular syndrome. Participant concerns about multiplex panel testing include limited guidelines for both testing eligibility and medical management. This study demonstrates high utilization of pedigree analysis and raises new questions about its use in multiplex genetic testing.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10897-014-9692-9DOI Listing
August 2014

Implementation and outcomes of telephone disclosure of clinical BRCA1/2 test results.

Patient Educ Couns 2013 Dec 19;93(3):413-9. Epub 2013 Aug 19.

Department of Medicine, Division of Hematology-Oncology, The University of Chicago, Chicago, USA; Center for Clinical Cancer Genetics and Global Health, The University of Chicago, Chicago, USA.

Objectives: With an increasing demand for genetic services, effective and efficient delivery models for genetic testing are needed.

Methods: In this prospective single-arm communication study, participants received clinical BRCA1/2 results by telephone with a genetic counselor and completed surveys at baseline, after telephone disclosure (TD) and after in-person clinical follow-up.

Results: Sixty percent of women agreed to participate; 73% of decliners preferred in-person communication. Anxiety decreased from baseline to post-TD (p=0.03) and satisfaction increased (p<0.01). Knowledge did not change significantly from baseline to post-TD, but was higher post-clinical follow-up (p=0.04). Cancer patients had greater declines in state anxiety and African-American participants reported less increase in satisfaction. 28% of participants did not return for in-person clinical follow-up, particularly those with less formal education, and higher post-disclosure anxiety and depression (p<0.01).

Conclusions: Telephone disclosure of BRCA1/2 test results may not be associated with negative cognitive and affective responses among willing patients, although some subgroups may experience less favorable responses. Some patients do not return for in-person clinical follow-up and longitudinal outcomes are unknown.

Practice Implications: Further evaluation of longitudinal outcomes of telephone disclosure and differences among subgroups can inform how to best incorporate telephone communication into delivery of genetic services.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pec.2013.08.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4199583PMC
December 2013

Receipt of genetic counseling recommendations among black women at high risk for BRCA mutations.

Genet Test Mol Biomarkers 2012 Nov 11;16(11):1257-62. Epub 2012 Oct 11.

Population Studies and Disparities Research Program, Karmanos Cancer Institute, Department of Oncology, Wayne State University School of Medicine, Detroit, MI 48201, USA.

Low use of BRCA counseling and testing services among black women has been reported in several studies, even though such services may play an important role in reducing racial disparities in breast cancer. Surprisingly, little is known about the extent to which black women at high risk for BRCA mutations actually receive recommendations for BRCA counseling. Thus, a primary goal of the current study was to identify sociodemographic and clinical factors associated with the receipt of physician recommendation for genetic counseling based on the self-report of black women at high risk for BRCA mutations. In this cross-sectional study, participants were 125 black women with a family history suggestive of a hereditary breast and/or ovarian cancer syndrome. Participants were asked about their receipt of genetic counseling recommendation or referral. Physician recommendation was reported by over two-thirds of the sample. Multivariate analyses revealed that older age and study recruitment source, specifically community-based recruitment, were significantly and independently associated with lower likelihood of physician recommendation. Findings highlight the need for additional research to identify subgroups of high-risk black women among whom physician recommendation of genetic counseling is low but would benefit from such counseling.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2012.0114DOI Listing
November 2012

Factors associated with psychological distress among women of African descent at high risk for BRCA mutations.

J Genet Couns 2013 Feb 27;22(1):101-7. Epub 2012 Jun 27.

Ferkauf Graduate School of Psychology, Yeshiva University, 1165 Morris Park Avenue, Bronx, NY 10461, USA.

Little is known about psychological distress among women of African descent who are at high risk for a BRCA mutation. This is a group for whom breast cancer risk reduction is critical due to the group's high rates of breast cancer mortality. Distress is important to consider as it may reduce the potential benefit of genetic counseling and negatively affect decision making related to risk reduction. The goals of the current study were to examine breast cancer-specific distress and depressive symptoms in women of African descent at who are at high risk for a BRCA mutation and to identify background factors associated with these outcomes. Participants were 148 high-risk African American and Caribbean women who were part of a larger study that offered participants BRCA counseling at no cost. Participants completed the Impact of Events Scale, which assessed breast cancer-specific distress, and the Center of Epidemiological Studies-Depression Scale, which assessed depressive symptoms. Results of analyses revealed that almost half of the sample achieved scores indicating high and clinically significant breast cancer-specific distress, while almost one-third had clinically significant depression scores. Results further showed that low income was significantly associated with cancer-specific distress, while having a cancer diagnosis was significantly associated with depressive symptoms. These results underscore the need for targeted psychological support throughout the genetic risk assessment process for this particular high-risk group.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10897-012-9510-1DOI Listing
February 2013

Influence of race/ethnicity on genetic counseling and testing for hereditary breast and ovarian cancer.

Breast J 2009 Sep-Oct;15 Suppl 1:S56-62

Familial Risk Assessment Program, Fox Chase Cancer Center, Philadelphia, Pennsylvania 19111, USA.

Risk assessment coupled with genetic counseling and testing for the cancer predisposition genes BRCA1 and BRCA2 (BRCA1/2) has become an integral element of comprehensive patient evaluation and cancer risk management in the United States for individuals meeting high-risk criteria for hereditary breast and ovarian cancer (HBOC). For mutation carriers, several options for risk modification have achieved substantial reductions in future cancer risk. However, several recent studies have shown lower rates of BRCA1/2 counseling and testing among minority populations. Here, we explore the role of race/ethnicity in cancer risk assessment, genetic counseling and genetic testing for HBOC and the BRCA1/2 cancer predisposition genes. Barriers to genetic services related to race/ethnicity and underserved populations, including socioeconomic barriers (e.g., time, access, geographic, language/cultural, awareness, cost) and psychosocial barriers (e.g., medical mistrust, perceived disadvantages to genetic services), as well as additional barriers to care once mutation carriers are identified, will be reviewed.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1524-4741.2009.00798.xDOI Listing
December 2009

The influence of acculturation and breast cancer-specific distress on perceived barriers to genetic testing for breast cancer among women of African descent.

Psychooncology 2009 Sep;18(9):945-55

Department of Oncological Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA.

Objective: Rising health disparities are increasingly evident in relation to use of genetic services (including genetic counseling and testing) for breast cancer risk, with women of African descent less likely to use genetic services compared with Whites. Meanwhile, little is known regarding potential within-group acculturation and psychological differences underlying perceived barriers to genetic testing among women of African descent.

Methods: Hypothesized contributions of acculturation factors and breast cancer-specific distress to perceived barriers to genetic testing were examined with a statistical analysis of baseline data from 146 women of African descent (56% US born and 44% foreign born) meeting genetic breast cancer risk criteria and participating in a larger longitudinal study that included the opportunity for free genetic counseling and testing. Perceived barriers assessed included: (1) anticipation of negative emotional reactions, (2) stigma, (3) confidentiality concerns, (4) family-related worry, and (5) family-related guilt associated with genetic testing.

Results: In multivariate analyses, being foreign born was a significant predictor of anticipated negative emotional reactions about genetic testing (beta=0.26; SE=0.11; p=0.01). Breast cancer-specific distress scores (avoidance symptoms) were positively related to anticipated negative emotional reactions (beta=0.02; SE=0.005; p=<0.0001), confidentiality concerns (beta=0.02; SE=0.01; p=0.02), and family-related guilt (beta=0.02; SE=0.01; p=0.0009) associated with genetic testing.

Conclusions: Results suggest an influence of acculturation and breast cancer-specific distress on perceived barriers to genetic testing among women of African descent. The potential utility of culturally tailored genetic counseling services taking into account such influences and addressing emotional and psychological concerns of women considering genetic testing for breast cancer should be investigated.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/pon.1492DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2735601PMC
September 2009

Association between temporal orientation and attitudes about BRCA1/2 testing among women of African descent with family histories of breast cancer.

Patient Educ Couns 2008 Aug 13;72(2):276-82. Epub 2008 May 13.

Mount Sinai School of Medicine, New York, NY 10029-6574, USA.

Objective: Previous studies have identified specific attitudes (pros and cons) about BRCA testing held by women of African descent that are associated with decisions to participate in testing. These testing attitudes may be determined, in part, by temporal orientation, or how one perceives the significance of events and the consequences of their actions in terms of past, present, and future. The current study explored the relationship between temporal orientation and pros and cons of BRCA testing among 140 women of African descent with a family history suggestive of a genetic mutation predisposing to breast cancer.

Methods: Participants completed measures of temporal orientation and genetic testing attitudes.

Results: Multivariate analyses indicated that future orientation was positively associated with perceived pros of testing. Additional analyses revealed significant associations between temporal orientation and specific item subsets related to the negative and positive impact of testing on family and personal control over one's health.

Conclusion: These results support an association between temporal orientation and attitudes about BRCA testing among women of African descent with family histories of breast cancer.

Practice Implications: Findings support exploration of temporal orientation in future research on BRCA testing decisions among women of African descent and this construct's importance in developing decision aids and tailoring genetic counseling.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pec.2008.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703430PMC
August 2008

Telephone genetic counseling for high-risk women undergoing BRCA1 and BRCA2 testing: rationale and development of a randomized controlled trial.

Genet Test 2008 Mar;12(1):37-52

Lombardi Comprehensive Cancer Center, Jess and Mildred Fisher Center for Familial Cancer Research Georgetown University, Washington, District of Columbia 20007-2401, USA.

Genetic counseling and testing, particularly for adult onset conditions, has become increasingly available over the last decade, and it is expected that this trend will continue as additional genes are identified and as such testing diffuses into mainstream clinical care. To meet the increased demand for services, it will become necessary to explore alternative avenues to traditional face-to-face genetic counseling. One such modality is the use of telephone genetic counseling (TGC), which is easy to implement and still allows for comprehensive service delivery. Although TGC has been used with increased frequency, there is a paucity of data about its effectiveness and impact on important patient outcomes. This paper provides an overview of the evolution of telephone counseling in nongenetics and genetics settings. The rationale and aims of the largest randomized clinical trial to be performed with this mode of counseling in the context of cancer susceptibility testing for mutations in the BRCA1 and BRCA2 genes are also explained. In addition, procedural aspects of the genetic counseling intervention and the novel tools developed to facilitate this process and to ensure adequate counselor training and quality assurance are described.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1089/gte.2006.0525DOI Listing
March 2008
-->