scholarly journals “Who Doesn’t Like Receiving Good News?” Perspectives of Individuals Who Received Genomic Screening Results by Mail

2021 ◽  
Vol 11 (5) ◽  
pp. 322
Author(s):  
Annika T. Beck ◽  
Erica J. Sutton ◽  
Carolyn P. Y. Chow ◽  
Susan H. Curtis ◽  
Iftikhar J. Kullo ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Disease Risk ◽  
Genetic Counselor ◽  
Preventive Health ◽  
Good News ◽  
Genomic Sequencing ◽  
Implementation Study ◽  
Telephone Interviews ◽  
Illness Experiences ◽  
Genomic Screening

As genomic sequencing expands to screen larger numbers of individuals, offering genetic counseling to everyone may not be possible. One approach to managing this limitation is for a genetic counselor to communicate clinically actionable results in person or by telephone, but report other results by mail. We employed this approach in a large genomic implementation study. In this paper, we describe participants’ experiences receiving genomic screening results by mail. We conducted 50 semi-structured telephone interviews with individuals who received neutral genomic screening results by mail. Most participants were satisfied receiving neutral results by mail. Participants generally had a good understanding of results; however, a few participants had misunderstandings about their genomic screening results, including mistaken beliefs about their disease risk and the comprehensiveness of the test. No one reported plans to alter health behaviors, defer medical evaluations, or take other actions that might be considered medically problematic. Reporting neutral results by mail is unlikely to cause recipients distress or generate misunderstandings that may result in reduced vigilance in following recommended preventive health strategies. Nonetheless, some individuals may benefit from additional genetic counseling support to help situate their results in the context of personal concerns and illness experiences.

scholarly journals “They’re Not Going to Do Nothing for Me”: Research Participants’ Attitudes towards Elective Genetic Counseling

2020 ◽  
Vol 10 (4) ◽  
pp. 143
Author(s):  
Erica J. Sutton ◽  
Annika T. Beck ◽  
Kylie O. Gamm ◽  
Jennifer B. McCormick ◽  
Iftikhar J. Kullo ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Counselor ◽  
Counseling Services ◽  
Genomic Sequencing ◽  
Research Participants ◽  
Potential Value ◽  
Genomic Screening ◽  
Study Participants ◽  
Genetic Counseling Services

As applications of genomic sequencing have expanded, offering genetic counseling support to all patients is arguably no longer practical. Additionally, whether individuals desire and value genetic counseling services for genomic screening is unclear. We offered elective genetic counseling to 5110 individuals prior to undergoing sequencing and 2310 participants who received neutral results to assess demand. A total of 0.2% of the study participants accessed genetic counseling services prior to sequencing, and 0.3% reached out after receiving neutral results. We later conducted 50 interviews with participants to understand why they did not access these services. Many interviewees did not recall the availability of genetic counseling and were unfamiliar with the profession. Interviewees described not needing counseling before sequencing because they understood the study and felt that they could cope with any result. Counseling was considered equally unnecessary after learning neutral results. Although the participants had questions about their results, they did not feel that speaking with a genetic counselor would be helpful. Genomic screening efforts that employ opt-in models of genetic counseling may need to clarify the potential value of genetic counseling support from the outset and feature genetic counseling services more prominently in program materials.

scholarly journals Integrating Genomic Screening into Primary Care: Provider Experiences Caring for Latino Patients at a Community-Based Health Center

2021 ◽  
Vol 12 ◽  
pp. 215013272110002
Author(s):  
Tarika Srinivasan ◽  
Erica J. Sutton ◽  
Annika T. Beck ◽  
Idali Cuellar ◽  
Valentina Hernandez ◽  
...  
Keyword(s):  
Primary Care ◽  
Health Care ◽  
Patient Care ◽  
Health Center ◽  
Care Provider ◽  
Primary Care Provider ◽  
Genomic Sequencing ◽  
Community Based ◽  
Genomic Screening

Introduction: Minority communities have had limited access to advances in genomic medicine. Mayo Clinic and Mountain Park Health Center, a Federally Qualified Health Center in Phoenix, Arizona, partnered to assess the feasibility of offering genomic screening to Latino patients receiving care at a community-based health center. We examined primary care provider (PCP) experiences reporting genomic screening results and integrating those results into patient care. Methods: We conducted open-ended, semi-structured interviews with PCPs and other members of the health care team charged with supporting patients who received positive genomic screening results. Interviews were recorded, transcribed, and analyzed thematically. Results: Of the 500 patients who pursued genomic screening, 10 received results indicating a genetic variant that warranted clinical management. PCPs felt genomic screening was valuable to patients and their families, and that genomic research should strive to include underrepresented minorities. Providers identified multiple challenges integrating genomic sequencing into patient care, including difficulties maintaining patient contact over time; arranging follow-up medical care; and managing results in an environment with limited genetics expertise. Providers also reflected on the ethics of offering genomic sequencing to patients who may not be able to pursue diagnostic testing or follow-up care due to financial constraints. Conclusions: Our results highlight the potential benefits and challenges of bringing advances in precision medicine to community-based health centers serving under-resourced populations. By proactively considering patient support needs, and identifying financial assistance programs and patient-referral mechanisms to support patients who may need specialized medical care, PCPs and other health care providers can help to ensure that precision medicine lives up to its full potential as a tool for improving patient care.

Genetic counseling and testing for breast-ovarian cancer susceptibility: what do women want?

1998 ◽  
Vol 16 (1) ◽  
pp. 133-138 ◽  
Author(s):  
J Audrain ◽  
B Rimer ◽  
D Cella ◽  
J Garber ◽  
B N Peshkin ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Genetic Counseling ◽  
Cancer Susceptibility ◽  
Genetic Counselor ◽  
Care Physician ◽  
Counseling And Testing ◽  
History Of ◽  
Optimal Approach ◽  
Medical Recommendations

PURPOSE To assess preferences for the content and process of genetic counseling and testing for breast-ovarian cancer susceptibility among women at high risk for breast cancer. METHODS Ninety-eight healthy women who had a family history of breast cancer in at least two first-degree relatives participated in a structured telephone survey that evaluated preferences for type of provider and the content and process of pretest education and posttest genetic counseling. RESULTS Forty-two percent of women preferred that pretest education be delivered by a genetic counselor, while 22% preferred an oncologist. This preference was positively associated with a desire to discuss psychosocial issues during the session (P = .001). For posttest counseling, 38% of women preferred an oncologist, while 20% preferred a genetic counselor. However, women who desired supportive counseling during this session were significantly more likely to prefer a genetic counselor to an oncologist (P = .02). Fewer women wished to see a primary care physician or gynecologist for pretest education (11%) or posttest counseling (22%). With regard to the counseling process, 82% of women wished to self-refer for genetic counseling, but 63% desired advice and recommendations about whether to be tested. CONCLUSION When feasible, the optimal approach may be for oncologists to work with genetic counselors to provide pretest education and medical recommendations. Elicitation of patients' preferences may be useful to determine the level of counseling services needed.

scholarly journals Conducting In-Depth Interviews via Mobile Phone with Persons with Common Mental Disorders and Multimorbidity: The Challenges and Advantages as Experienced by Participants and Researchers

2021 ◽  
Vol 18 (22) ◽  
pp. 11828
Author(s):  
Azadé Azad ◽  
Elisabet Sernbo ◽  
Veronica Svärd ◽  
Lisa Holmlund ◽  
Elisabeth Björk Brämberg
Keyword(s):  
Mental Disorders ◽  
Mobile Phone ◽  
Common Mental Disorders ◽  
Qualitative Interviews ◽  
Self Disclosure ◽  
Telephone Interviews ◽  
Illness Experiences ◽  
Research Interviews ◽  
Field Notes ◽  
Depth Interviews

Qualitative interviews are generally conducted in person. As the coronavirus pandemic (COVID-19) prevents in-person interviews, methodological studies which investigate the use of the telephone for persons with different illness experiences are needed. The aim was to explore experiences of the use of telephone during semi-structured research interviews, from the perspective of participants and researchers. Data were collected from mobile phone interviews with 32 individuals who had common mental disorders or multimorbidity which were analyzed thematically, as well as field notes reflecting researchers’ experiences. The findings reveal several advantages of conducting interviews using mobile phones: flexibility, balanced anonymity and power relations, as well as a positive effect on self-disclosure and emotional display (leading to less emotional work and social responsibility). Challenges included the loss of human encounter, intense listening, and worries about technology, as well as sounds or disturbances in the environment. However, the positive aspects of not seeing each other were regarded as more important. In addition, we present some strategies before, during, and after conducting telephone interviews. Telephone interviews can be a valuable first option for data collection, allowing more individuals to be given a fair opportunity to share their experiences.

The Laboratory Genetic Counselor as an Educator

2017 ◽  
Author(s):  
Eric Rosenthal ◽  
April L. Studinski Jones
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Medical Students ◽  
Graduate Students ◽  
Educational Program ◽  
Genetic Counselor ◽  
Genetic Counselors ◽  
Educational Resource ◽  
Testing Laboratory ◽  
Laboratory Staff

The laboratory genetic counselor is commonly called upon to serve as an educational resource within the genetic testing laboratory. This chapter outlines this unique genetic counseling role. Laboratory genetic counselors provide education about genetic testing and genetic concepts within the laboratory to existing laboratory staff, new laboratory genetic counselor colleagues, formal educational program participants (genetic counselor interns, graduate students, medical students and residents, and laboratory fellows), and laboratory colleagues. They also use their skills and knowledge to educate client laboratories and clinicians. They may also participate in public and community forums.

Genetic Counselor Role in Sales and Marketing

2017 ◽  
Author(s):  
Colleen Landy Schmitt ◽  
Gabriel A. Lazarin
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Communication Skills ◽  
Genetic Counselor ◽  
Genetic Counselors ◽  
Counseling Training ◽  
Testing Laboratories ◽  
Genetic Counseling Training ◽  
Sales And Marketing ◽  
Counselor Role

Sales and marketing functions may be a good fit for laboratory genetic counselors. Genetic counselors can use the technical and communication skills they learned during genetic counseling training to perform roles in marketing and sales and as medical liaisons for genetic testing laboratories. This chapter describes how genetic counselors in sales roles use their genetic counseling background. It discusses the challenges and limitations of such roles. Resources for thriving in sales and marketing roles are provided.

Barriers and stimuli for genetic counseling among unaffected women at high risk for breast cancer

2006 ◽  
Vol 24 (18_suppl) ◽  
pp. 6144-6144
Author(s):  
S. Cummings ◽  
A. Pakilit ◽  
M. Stolley ◽  
S. Khan
Keyword(s):  
Breast Cancer ◽  
Genetic Counseling ◽  
High Risk ◽  
Cancer Genetics ◽  
Coding System ◽  
Breast Clinic ◽  
Factors Affecting ◽  
Patient Understanding ◽  
Telephone Interviews ◽  
Qualitative Interview Study

6144 Background: Genetic counseling (GC) is available to provide risk assessment and education about hereditary cancer, explore the medical and psychosocial impact of these risks, and to facilitate genetic testing (GT) and its complex interpretation. While the motivations for undergoing GT have been well documented, little is known about patient motives to initially seek GC. Current uptake of GC services does not match the number of eligible patients. This study attempted to characterize the barriers and stimuli for cancer GC among unaffected women at high risk for breast cancer. Methods: IRB approval was obtained for this qualitative interview study. 54 unaffected patients who received a cancer genetics referral from a high-risk breast clinic were invited to participate. 18 subjects completed written questionnaires and 60-min telephone interviews, which were audiotaped and transcribed. A detailed coding system was developed and N*Vivo software was used in order to identify themes in the factors affecting intent to pursue GC. Results: We identified four themes in the factors affecting uptake of GC: 1)patient understanding of GC, 2)patient awareness of increased cancer risk, 3) family-tied life events (e.g. reproduction, caretaking, death), and 4) support for GC from physicians and family. The most common theme was patient understanding of GC. Subjects did not seem to differentiate between GC and GT, and they deferred GC until they were prepared to undergo GT. Conclusion: We identified barriers and stimuli for GC that were similar to those previously described for GT. The misconception that GC automatically leads to GT, and the subsequent low uptake of GC referrals, may be influenced by the current practice of non-directive referrals. Providing more directive referrals for GC, without being directive about GT, may reduce barriers to GC. No significant financial relationships to disclose.

Successful integration of genetic counseling in a comprehensive childhood cancer survivorship clinic.

2017 ◽  
Vol 35 (5_suppl) ◽  
pp. 230-230
Author(s):  
Shafqat Shah ◽  
Gregory John Aune ◽  
Lindsey Mette ◽  
Natalie Poullard
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Family History ◽  
Childhood Cancer ◽  
Cancer Survivorship ◽  
Chart Review ◽  
Genetic Counselor ◽  
Pilot Project ◽  
Cancer Predisposition ◽  
Childhood Cancer Survivorship

230 Background: Awareness of inherited genetic risk and cancer predisposition has markedly increased. Research has shown that germline mutations in known cancer predisposition genes are identified in ~8% of pediatric oncology patients. Patients diagnosed years ago did not meet with a Genetic counselor or undergo genetic testing. The annual comprehensive survivorship visit provides cancer survivors an opportunity to review personal and family history and receive Genetic counseling. Methods: Our group initiated a pilot project in our Childhood Cancer Survivorship clinic (CCSC) to assess the feasibility of introducing survivors to a Certified Genetic Counselor (CGC). Initially, a chart review of annual visits that took place over a 3-month period was performed. A record of documentation of family history and genetic counseling was made. During the pilot period, survivors and their families were given the option to meet with a CGC. The CGC prepared a pedigree and made specific written recommendations regarding the indication, if any, for genetic testing in the patient or family. Anonymous post-counseling surveys were mailed to the families to gauge their satisfaction. Results: Prior to the pilot, 38 survivors were seen for annual visits over a 3 month period. Chart review identified no formal genetic counseling. A note of a family history of cancer was made in 1 patient. During the 3 month implementation period, 50 survivors were seen for annual visits. Thirty-four ( ~70%) accepted the offer to see a CGC. Of the 16 that did not meet with a CGC, 3 had significant medical issues that required attention, 2 had Down syndrome and 2 had previous genetic counseling. The rest declined interest with no specific rationale. Very few (3) surveys were returned. All rated the experience highly. Conclusions: Our experience in a multi-disciplinary CCSC supports the feasibility of delivering CGC services to long-term survivors of cancer. A majority of survivors were interested in meeting with the CGC. Further development of this program will focus on educating survivors about cancer predisposition and increasing access to CGC services.

A randomized controlled trial of video-education or in-person genetic counseling for men with prostate cancer (ProGen).

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. 1507-1507
Author(s):  
Huma Q. Rana ◽  
Jill E. Stopfer ◽  
Nancie Petrucelli ◽  
Diane R. Koeller ◽  
Sara Pirzadeh-Miller ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Genetic Counseling ◽  
Informed Consent ◽  
Controlled Trial ◽  
Genetic Counselor ◽  
Local Therapy ◽  
Cancer Surveillance ◽  
Cancer Susceptibility Genes ◽  
Video Education ◽  
Time Of Intervention

1507 Background: Approximately 10% of men with advanced prostate cancer (PC) have pathogenic/likely pathogenic variants (PV) in cancer susceptibility genes and their identification may lead to targeted therapy. Genetic testing (GT) can also guide cancer surveillance and prevention for family members. While GT is recommended for men with potentially lethal PC, traditional testing models are strained, and access limited. The ProGen study examined a novel pretest model aimed at providing access to GT while promoting informed consent. Methods: Inclusion criteria were: potentially lethal PC (metastatic, localized with Gleason score ≥8, rising/persistent PSA after local therapy), diagnosis age ≤ 55 years, prior malignancy, family history suggestive of a PV and/or at oncologist’s discretion. Consented subjects from 3 sites were randomized 3:1 to video education (VE) or in-person genetic counseling (GC). Subjects who consented to GT had 67 genes analyzed (Ambry, USA) with results disclosed by telephone by a genetic counselor. Outcomes included GT uptake, PV prevalence, and survey measures of satisfaction, distress, genetics knowledge, family communication, and impact on cancer care (obtained at the time of intervention, and at 1, 4, and 12 months after result disclosure). Two-sided Fischer exact tests were used for between-arm comparisons. Results: Over a 2-year period: 662 subjects were randomized, VE or GC were completed by 604 subjects (VE: 93.1%, GC: 88.8%) of whom 596 subjects (VE:98.9%, GC:97.9%) consented to GT. To date, 591 subjects have completed GT (VE: 99.3%, GC: 98.6%). At the time of intervention, most subjects agreed or strongly agreed that their assigned arm was useful (VE: 95%, GC: 88%). Differences were not statistically significant. Notably, 84 PV were identified in 78 subjects (13.2%), with BRCA1/2 PV accounting for 32% of subjects with a positive result ( BRCA2:21, BRCA1:4). Conclusions: In this randomized trial, both novel VE and traditional GC yielded high GT uptake without significant differences in outcome measures of acceptability and satisfaction. VE enabled access to critical GT results while maintaining the core tenants of informed consent. PV were found in 13.2% of subjects, 32% of whom had BRCA1/2 PV. Analysis of collected survey data to inform strengths and limitations of VE as compared with pretest GC will be presented. Clinical trial information: NCT03328091.

Partnership with an independent genetic counselor and standardized screening: Effect on the identification, referral, and genetic testing of eligible patients in a community oncology clinic.

2019 ◽  
Vol 37 (27_suppl) ◽  
pp. 138-138
Author(s):  
Larry Edward Bilbrey ◽  
Natalie R. Dickson ◽  
Smita K Rao ◽  
Gregg Christian Shepard ◽  
Kathy McGee ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Genetic Counselor ◽  
Pathogenic Mutation ◽  
Baseline Data ◽  
Community Practice ◽  
Nccn Guidelines ◽  
Community Oncology ◽  
Automated Screening

138 Background: A nine provider, community oncology clinic had limited local access to genetic counseling. Additionally, the practice had no process for identifying appropriate patients for genetic counseling or testing and no method to track referrals and test results. The practice partnered with a contracted genetic counselor and a study was completed to standardize screening and follow-up and to increase referrals and testing. Methods: Baseline data on genetic testing performed in 2018 was obtained from three major genetic testing labs. Based on the NCCN guidelines for genetic assessment, the practice created automated screening reports from the EMR, supplemented by manual chart review, to identify appropriate patients for genetic counseling. Front office, clinical and billing workflows were created. Patients were scheduled to see the counselor via in-person appointments or remotely via a HIPAA compliant telemedicine platform. The genetic counseling sessions included education and consent for testing followed by review and discussion of results. Consultations and genetic testing results were documented in the practice’s EMR. Results: Baseline data showed that the clinic tested 7 patients in 2018; 2 patients in the first quarter. During the pilot from Jan-Mar 2019, 34 patients were referred for genetic counseling; 30 consented to testing. This is a 329% increase over 2018; 1400% for the first quarter. Of the 30 patients tested during the pilot, 6 were positive for a pathogenic mutation. Conclusions: By contracting with a genetic counselor, and establishing procedures for screening, counseling, consenting, testing and follow-up, the practice was able to increase the number of appropriate genetic testing considerably. This process will be scaled to multiple sites of a community practice.

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