FDA Approval of PARP Inhibitors and the Impact on Genetic Counseling and Genetic Testing Practices

2017 ◽  
Vol 27 (1) ◽  
pp. 131-139 ◽  
Author(s):  
Kathryn M. Buchtel ◽  
Kristen J. Vogel Postula ◽  
Shelly Weiss ◽  
Carmen Williams ◽  
Mario Pineda ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Parp Inhibitors ◽  
Fda Approval ◽  
Testing Practices ◽  
The Impact

scholarly journals Global approaches to postmortem genetic testing after sudden cardiac death in the young: A survey among healthcare professionals

2020 ◽  
Author(s):  
Lieke M. van den Heuvel ◽  
Judy Do ◽  
Laura Yeates ◽  
Heather MacLeod ◽  
Cynthia A. James ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Healthcare Professionals ◽  
Professional Associations ◽  
Financial Resources ◽  
Multidisciplinary Teams ◽  
Testing Practices ◽  
Postmortem Genetic Testing

ABSTRACTPurposeThorough investigation of sudden cardiac death (SCD) in those aged 1-40 years commonly reveals a heritable cause, yet access to postmortem genetic testing is variable. We explore practices of postmortem genetic testing and attitudes of healthcare professionals worldwide.MethodsA survey was administered among healthcare professionals recruited through professional associations, social media and networks of researchers. Topics included practices around postmortem genetic testing, level of confidence in healthcare professionals’ ability, and attitudes towards postmortem genetic testing practices.ResultsThere were 112 respondents, with 93% from North America, Europe and Australia and 7% from South America, Asia and Africa. Only 30% reported autopsy as mandatory, and overall practices were largely case-by-case and not standardised. North American respondents (87%) more often perceived practices as ineffective compared to those from Europe (58%) and Australia/New Zealand (48%, p=0.002). Where a heritable cause is suspected, 69% considered postmortem genetic testing and 61% offered genetic counseling to surviving family members; financial resources varied widely. Half believed practices in their countries perpetuated health inequalities.ConclusionPostmortem genetic testing is not consistently available in the investigation of young SCD despite being a recommendation in international guidelines. Access to postmortem genetic testing, guided by well-resourced multidisciplinary teams, is critical in ascertaining a cause of death in many cases.

The impact of converting to telehealth for cancer genetic counseling and testing during the COVID-19 pandemic.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. e13612-e13612
Author(s):  
Katherine Crawford ◽  
Ekaterina Koelliker ◽  
Ellie Proussaloglou ◽  
Jessica Laprise ◽  
Jennifer Scalia Wilbur ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Saliva Sample ◽  
Cancer Genetic Counseling ◽  
Testing Time ◽  
Cancer Genetic ◽  
Blood Draw ◽  
Significant Difference ◽  
The Impact

e13612 Background: The COVID-19 outbreak in March 2020 resulted in the shift to telemedicine for many specialties including cancer genetic counseling (GC). We sought to understand the impact that converting GC services to telehealth (TH) would have on patient acceptance of recommended genetic testing, time to completion of testing, and time to follow-up GC consultation. Methods: Data analyzing GC in-patient vs. TH consultations were collected using both electronic medical record as well as a laboratory’s testing portal. Statistical analysis was performed using R statistical software. The rates of patient agreement to genetic testing and sample success, along with the time to report availability and to GC follow-up visit was compared between traditional in-person visits and TH visits during the COVID-19 pandemic. In-person visits from March -July 2019 were compared with date matched visits from March -July 2020, when all visits had been converted to TH. Patients who received an in-person consultation received a blood draw on the day of their appointment while TH patients were asked to mail a saliva sample back to the testing laboratory. Results: An analysis of a case-matched cohort between 2019 in-person new visits (n = 30) and 2020 TH new visits (n = 48) was performed. There was not a significant difference in rate of consent to suggested testing between in-person (93.3%) and TH (91.2%) (p = 0.29), though a few TH patients who consented failed to submit a sample (% tested = 93.3% vs. 85.4%, p = 0.01). TH patients had a longer time between their initial consult and when the test report was generated with average turn-around time increasing from 14.33 to 33.82 days (p < 0.1). There was no increase in time from initial consultation to follow up GC appointments (70.46 vs. 75.96 days, p = 0.74) for TH and in-person, respectively. Conclusions: Our data shows that during COVID-19, TH allowed patients to access GC with no significant differences in the length of time between initial consultation and follow up appointments. The type of GC received did not greatly influence a patient’s willingness to consent to testing, despite challenges related to the COVID-19 pandemic, indicating that TH services may be an acceptable substitute. However, TH services are not without their limitations as time between the initial appointment and receipt of test results was significantly longer and sample failure rates were higher. We postulate that the delay was due to the time it took to ship the saliva kit, have the patient collect the sample at home, and return the specimen back to the lab rather than the immediate blood draw that occurs during the in-person visit. The higher sample failure rate seen in TH is likely due to the differences between blood and saliva collections. Additional research is needed to fully understand the outcomes observed in this study in order to assist in developing the most effective strategies for cancer genetic TH services.

Ten-fold increase in genetic testing in pancreatic and metastatic prostate cancer with implementation of point of care (POC) testing.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. 1506-1506 ◽  
Author(s):  
Heather Symecko ◽  
Rebecca Mueller ◽  
Kelsey Spielman ◽  
Melissa Batson ◽  
Stacy Pundock ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
Family Members ◽  
Fold Increase ◽  
Number Of Patients ◽  
Before And After ◽  
Post Test ◽  
The Impact ◽  
Before And After Study

1506 Background: Germline genetic testing (GT) for cancer susceptibility is recommended for pancreatic and advanced prostate cancer patients, due to potential implications for targeted therapies and risk assessment of family members. Traditional cancer GT programs may create barriers for certain patient populations. To more effectively integrate testing into standard oncology care POC GT was introduced in early 2018 in a joint protocol with Memorial Sloan Kettering Cancer Center. Here we report pre and post POC referral and testing numbers at the University of Pennsylvania. Methods: Patients with metastatic prostate or pancreatic cancer were ascertained through their GU/GI oncologist onto an IRB approved protocol and shown an educational video about GT by research staff who obtained informed consent and facilitated biospecimen collection. Genetic counselors returned results and provided post-test counseling by phone. To evaluate the impact of this model on the uptake of GT services, the number of patients who were referred to and proceeded with GT was compared before and after study initiation. Results: In 2017, 77 patients were referred to genetics of which 45 underwent genetic counseling and testing. Twenty-nine (38%) did not complete genetic counseling or testing, and 3 later underwent testing through the POC study. Since the study launched in 2018, 407 patients were referred and underwent testing through the study. This represents a ten-fold increase in patients who underwent GT. Conclusions: Comparing uptake of GT services before and after study initiation suggests that a POC model with abbreviated pre-test education and post-test genetic counseling by phone is a possible solution to barriers of traditional genetic counseling, increasing physician referrals and uptake of testing by patients. This approach allows for more timely access to genetic information that may impact treatment strategies and medical management of family members. Clinical trial information: pending. [Table: see text]

scholarly journals Utilization of Genetic Counseling after Direct-to-Consumer Genetic Testing: Findings from the Impact of Personal Genomics (PGen) Study

2017 ◽  
Vol 26 (6) ◽  
pp. 1270-1279 ◽  
Author(s):  
Diane R Koeller ◽  
◽  
Wendy R Uhlmann ◽  
Deanna Alexis Carere ◽  
Robert C Green ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Personal Genomics ◽  
Direct To Consumer ◽  
The Impact

The impact of Angelina Jolie's (AJ) story on genetic referral and testing at an academic cancer centre.

2014 ◽  
Vol 32 (26_suppl) ◽  
pp. 44-44 ◽  
Author(s):  
Jacques Raphael ◽  
Sunil Verma ◽  
Paul Hewitt ◽  
Andrea Eisen
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
Breast And Ovarian Cancer ◽  
Before And After ◽  
History Of ◽  
The Media ◽  
The Impact

44 Background: In May 2013, AJ revealed to the media that she had undergone preventive double mastectomy. The actress had a family history of breast and ovarian cancer and tested positive for the BRCA1 gene mutation. Media coverage has been extensive, but it’s not clear what messages the public and professional medical staff took from this personal story that sometimes could be misleading. Methods: We conducted a retrospective review in our centre using data from the clinical database of the Familial Cancer Program in a tertiary care cancer centre. The impact of AJ’s story on genetic counseling referrals was assessed by comparing the number of referrals made 6 months before and after the story. In addition, the quality of referrals was reported by comparing the number of patients who qualified for genetic testing as defined by the Ontario Ministry of Health and Long Term Care and the ones who carried a BRCA1/2 mutation before and after the media release. Results: The number of women referred for genetic counseling increased by 85% after the release of AJ’s story (479 before versus 887 after). This translated to an increase of 99% in the number of women who qualified for a genetic testing (211 before versus 419 after). Among them, 120 and 254 women had a history of breast and ovarian cancer in their family, 16 and 37 women had a history of male breast cancer in their family, and 28 and 15 women were diagnosed with breast cancer at the age of 35 or less before and after AJ’s story respectively. Furthermore, the number of BRCA1/2 carriers identified increased by 107% (29 (14 BRCA1, 15 BRCA2) before and 60 (32 BRCA1, 28 BRCA2) after). Conclusions: This study clearly shows that the number of genetic referrals doubled after AJ’s story. Nevertheless, the quality of referral remained the same with nearly the same percentage of patients who qualified for genetic testing and who were identified as BRCA1/2 carriers. The challenge is to meet the increased demand for cancer genetic services including screening, counseling, testing, and preventive surgery. After AJ’s story the current model of genetic counseling may need to be revisited.

scholarly journals Disclosure of clinically actionable genetic variants to thoracic aortic dissection biobank participants

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Adelyn Beil ◽  
Whitney Hornsby ◽  
Wendy R. Uhlmann ◽  
Rajani Aatre ◽  
Patricia Arscott ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Aortic Dissection ◽  
Average Cost ◽  
Survey Study ◽  
Thoracic Aortic Dissection ◽  
Pathogenic Variants ◽  
Trade Offs ◽  
The Impact ◽  
Genetic Results

Abstract Background Disclosure of pathogenic variants to thoracic aortic dissection biobank participants was implemented. The impact and costs, including confirmatory genetic testing in a Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory, were evaluated. Methods We exome sequenced 240 cases with thoracic aortic dissection and 258 controls, then examined 11 aortopathy genes. Pathogenic variants in 6 aortopathy genes (COL3A1, FBN1, LOX, PRKG1, SMAD3, and TGFBR2) were identified in 26 participants, representing 10.8% of the cohort (26/240). A second research sample was used to validate the initial findings. Mailed letters to participants disclosed that a potentially disease causing DNA alteration had been identified (neither the gene nor variant was disclosed). Participants were offered clinical genetic counseling and confirmatory genetic testing in a CLIA laboratory. Results Excluding 6 participants who were deceased or lost to follow-up, 20 participants received the disclosure letter, 10 of whom proceeded with genetic counseling, confirmatory genetic testing, and enrolled in a survey study. Participants reported satisfaction with the letter (4.2 ± 0.7) and genetic counseling (4.4 ± 0.4; [out of 5, respectively]). The psychosocial impact was characterized by low decisional regret (11.5 ± 11.6) and distress (16.0 ± 4.2, [out of 100, respectively]). The average cost for 26 participants was $400, including validation and sending letters. The average cost for those who received genetic counseling and CLIA laboratory confirmation was $605. Conclusions Participants were satisfied with the return of clinically significant biobank genetic results and CLIA laboratory testing; however, the process required significant time and resources. These findings illustrate the trade-offs involved for researchers considering returning research genetic results.

scholarly journals Breadth of Genetic Testing Selected by Patients at Risk of Hereditary Breast and Ovarian Cancer

2018 ◽  
Vol 28 (1) ◽  
pp. 26-33 ◽  
Author(s):  
J. Brian Szender ◽  
Jasmine Kaur ◽  
Katherine Clayback ◽  
Mollie L. Hutton ◽  
June Mikkelson ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
At Risk ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
Confidence Interval ◽  
Categorical Variables ◽  
Breast And Ovarian Cancer ◽  
Clinical Genetic ◽  
Patients At Risk ◽  
The Impact

ObjectiveThe aim of this study was to evaluate the ability of patients at risk of hereditary breast and ovarian cancer (HBOC) syndrome to select the extent of genetic testing personally preferred and the impact of demographic factors on the breadth of testing pursued.MethodsA single-institution cohort was enumerated consisting of patients referred for clinical genetic counseling secondary to risk of HBOC syndrome. This was a retrospective study of consecutive patients seen for genetic counseling; all patients completed an epidemiologic questionnaire and provided personal and family medical histories. Patients meeting guidelines for testing were offered testing at 3 levels: single gene/condition (Single), small panels with highly penetrant genes (Plus), and large panels with high and moderately penetrant genes (Next). Associations between personal or family-related factors and breadth of testing selected were investigated. Continuous and categorical variables were compared using Student t and χ2 tests, as appropriate. Joint classification tables were used to test for effect modification, and a log-binomial model was used to compute rate ratios (RR) with a threshold of P < 0.05 considered significant.ResultsWe identified 253 patients who underwent genetic counseling for HBOC syndrome. Most patients were personally affected by cancer (63.6%), reported at least some college (79.2%), met the National Comprehensive Cancer Network guidelines for BRCA testing (94.5%), and opted to undergo genetic testing (94.1%). Most (84.9%) patients opted for panel testing. An increased likelihood of choosing Next-level testing was found to be associated with patients having any college experience (RR, 1.53; 95% confidence interval, 1.02–2.30), as well as being unaffected by cancer (RR, 1.30; 95% confidence interval, 1.03–1.64).ConclusionsClinical genetic counseling is a highly specialized service, which should be provided to patients at risk of hereditary cancer syndromes. Although some epidemiologic factors can predict a patient's preference for testing breadth, patients were sufficiently able to self-identify the level of testing they were comfortable with after receiving genetic counseling. Most practitioners do not have the time or expertise to provide the degree of counseling needed to enable and empower patients to choose the level of testing they are comfortable with. When available, referral to genetic counselors remains an important component of comprehensive care for women with a personal or family history of cancer suggestive of hereditary risk.

Status of BRCA1/2 Genetic Testing Practices in Korea (2014)

2018 ◽  
Vol 8 (3) ◽  
pp. 107 ◽  
Author(s):  
Kyungju Lee ◽  
Ja-Hyun Jang ◽  
Seung-Tae Lee ◽  
Kyong-Ah Yoon ◽  
Eun Sook Lee ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Testing Practices

scholarly journals A framework for the evaluation of patients with congenital facial weakness

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Bryn D. Webb ◽  
Irini Manoli ◽  
Elizabeth C. Engle ◽  
Ethylin W. Jabs
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Patient Population ◽  
Clinical Care ◽  
Diagnostic Algorithm ◽  
Accurate Diagnosis ◽  
Facial Weakness ◽  
The Core ◽  
Follow Up Studies

AbstractThere is a broad differential for patients presenting with congenital facial weakness, and initial misdiagnosis unfortunately is common for this phenotypic presentation. Here we present a framework to guide evaluation of patients with congenital facial weakness disorders to enable accurate diagnosis. The core categories of causes of congenital facial weakness include: neurogenic, neuromuscular junction, myopathic, and other. This diagnostic algorithm is presented, and physical exam considerations, additional follow-up studies and/or consultations, and appropriate genetic testing are discussed in detail. This framework should enable clinical geneticists, neurologists, and other rare disease specialists to feel prepared when encountering this patient population and guide diagnosis, genetic counseling, and clinical care.

Identification and management of familial breast cancer in Austria

2017 ◽  
Vol 32 (2) ◽  
Author(s):  
Christian F. Singer ◽  
Yen Y. Tan ◽  
Christine Rappaport
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
Familial Breast Cancer ◽  
Prophylactic Surgery ◽  
Management Options ◽  
Counseling And Testing ◽  
Legal Implications

AbstractAimThe aim of this study is to review the legal implications, the technology, the indications and the management of women with a familial background of breast and/or ovarian cancer.MethodsWe have reviewed the literature and national Austrian guidelines to describe the uptake of genetic counseling and the management options offered in Austria.ResultsGenetic testing for theConclusionWhile readily available country-wide counseling has led to an increase in counseling and testing, Austrian legislation mandates “non-directional counseling” resulting in a comparatively low uptake of prophylactic surgery.

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