Skip to main content
Top
Published in: Breast Cancer Research and Treatment 1/2018

01-05-2018 | Preclinical study

Impact of an embedded genetic counselor on breast cancer treatment

Authors: Holly J. Pederson, Najaah Hussain, Ryan Noss, Courtney Yanda, Colin O’Rourke, Charis Eng, Stephen R. Grobmyer

Published in: Breast Cancer Research and Treatment | Issue 1/2018

Login to get access

Abstract

Background

We predicted that embedding a genetic counselor within our breast practice would improve identification of high-risk individuals, timeliness of care, and appropriateness of surgical decision making. The aim of this study is to compare cancer care between 2012 and 2014, prior to embedding a genetic counselor in the breast center and following the intervention, respectively.

Methods

A retrospective review of patients diagnosed with breast cancer in 2012 (n = 471) and 2014 (n = 440) was performed to assess patterns of medical genetics referral, compliance with referral, genetic testing findings, and impact on treatment.

Results

Between 2012 and 2014, patients were 49% more likely to be referred to genetics, 66% more likely to follow through with their genetic counseling appointment, experienced a 73% reduction in wait times to genetic counseling visits and 69% more likely to have genetic testing results prior to surgery. Notably, while the number of genetic mutations identified was in the expected range over both time periods (9% of those tested in 2012 vs. 6.6% of those tested in 2014), there was a 31% reduction in time to treatment in 2014 vs. 2012.

Conclusion

Awareness of germline genetic mutations is critical in surgical decision making for newly diagnosed breast cancer patients. Having an experienced genetics specialist on site in a busy surgical breast clinic allows for timely access to genetic counseling and testing, and may have influenced time to treatment in our institution.
Literature
1.
go back to reference Buys SS, Sandbach JF, Gammon A et al (2017) A study of over 35,000 women with breast cancer tested with a 25-gene panel of hereditary cancer genes. Cancer 123:1721–1730CrossRefPubMed Buys SS, Sandbach JF, Gammon A et al (2017) A study of over 35,000 women with breast cancer tested with a 25-gene panel of hereditary cancer genes. Cancer 123:1721–1730CrossRefPubMed
2.
go back to reference Couch FJ, Hart SN, Sharma P et al (2015) Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. J Clin Oncol 33:304–311CrossRefPubMed Couch FJ, Hart SN, Sharma P et al (2015) Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. J Clin Oncol 33:304–311CrossRefPubMed
3.
go back to reference Kurian AW, Hare EE, Mills MA et al (2014) Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. J Clin Oncol 32:2001–2009CrossRefPubMedPubMedCentral Kurian AW, Hare EE, Mills MA et al (2014) Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. J Clin Oncol 32:2001–2009CrossRefPubMedPubMedCentral
4.
go back to reference Tung N, Battelli C, Allen B et al (2015) Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. Cancer 121:25–33CrossRefPubMed Tung N, Battelli C, Allen B et al (2015) Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. Cancer 121:25–33CrossRefPubMed
5.
go back to reference Tung N, Lin NU, Kidd J et al (2016) Frequency of germline mutations in 25 cancer susceptibility genes in a sequential series of patients with breast cancer. J Clin Oncol 34:1460–1468CrossRefPubMedPubMedCentral Tung N, Lin NU, Kidd J et al (2016) Frequency of germline mutations in 25 cancer susceptibility genes in a sequential series of patients with breast cancer. J Clin Oncol 34:1460–1468CrossRefPubMedPubMedCentral
6.
go back to reference Yurgelun MB, Allen B, Kaldate RR et al (2015) Identification of a variety of mutations in cancer predisposition genes in patients with suspected lynch syndrome. Gastroenterology 149(604–13):e20 Yurgelun MB, Allen B, Kaldate RR et al (2015) Identification of a variety of mutations in cancer predisposition genes in patients with suspected lynch syndrome. Gastroenterology 149(604–13):e20
7.
go back to reference NCCN Guidelines 1. 2018 genetic/familial risk assessment: breast and ovarian. 2017 NCCN Guidelines 1. 2018 genetic/familial risk assessment: breast and ovarian. 2017
8.
go back to reference Lokich E, Stuckey A, Raker C, Wilbur JS, Laprise J, Gass J (2014) Preoperative genetic testing affects surgical decision making in breast cancer patients. Gynecol Oncol 134:326–330CrossRefPubMed Lokich E, Stuckey A, Raker C, Wilbur JS, Laprise J, Gass J (2014) Preoperative genetic testing affects surgical decision making in breast cancer patients. Gynecol Oncol 134:326–330CrossRefPubMed
9.
go back to reference Pennington KP, Walsh T, Harrell MI et al (2014) Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas. Clin Cancer Res 20:764–775CrossRefPubMed Pennington KP, Walsh T, Harrell MI et al (2014) Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas. Clin Cancer Res 20:764–775CrossRefPubMed
10.
go back to reference Robson M, Im SA, Senkus E et al (2017) Olaparib for metastatic breast cancer in patients with a germline BRCA mutation. N Engl J Med 377:523–533CrossRefPubMed Robson M, Im SA, Senkus E et al (2017) Olaparib for metastatic breast cancer in patients with a germline BRCA mutation. N Engl J Med 377:523–533CrossRefPubMed
11.
go back to reference Byrski T, Gronwald J, Huzarski T et al (2010) Pathologic complete response rates in young women with BRCA1-positive breast cancers after neoadjuvant chemotherapy. J Clin Oncol 28:375–379CrossRefPubMed Byrski T, Gronwald J, Huzarski T et al (2010) Pathologic complete response rates in young women with BRCA1-positive breast cancers after neoadjuvant chemotherapy. J Clin Oncol 28:375–379CrossRefPubMed
12.
go back to reference Kuchenbaecker KB, Hopper JL, Barnes DR et al (2017) Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA 317:2402–2416CrossRefPubMed Kuchenbaecker KB, Hopper JL, Barnes DR et al (2017) Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA 317:2402–2416CrossRefPubMed
13.
go back to reference Weitzel JN, McCaffrey SM, Nedelcu R, MacDonald DJ, Blazer KR, Cullinane CA (2003) Effect of genetic cancer risk assessment on surgical decisions at breast cancer diagnosis. Arch Surg 138:1323–1328; discussion 9 Weitzel JN, McCaffrey SM, Nedelcu R, MacDonald DJ, Blazer KR, Cullinane CA (2003) Effect of genetic cancer risk assessment on surgical decisions at breast cancer diagnosis. Arch Surg 138:1323–1328; discussion 9
14.
go back to reference Metcalfe K, Gershman S, Ghadirian P et al (2014) Contralateral mastectomy and survival after breast cancer in carriers of BRCA1 and BRCA2 mutations: retrospective analysis. BMJ 348:g226CrossRefPubMedPubMedCentral Metcalfe K, Gershman S, Ghadirian P et al (2014) Contralateral mastectomy and survival after breast cancer in carriers of BRCA1 and BRCA2 mutations: retrospective analysis. BMJ 348:g226CrossRefPubMedPubMedCentral
15.
go back to reference Eichmeyer JN, Burnham C, Sproat P, Tivis R, Beck TM (2014) The value of a genetic counselor: improving identification of cancer genetic counseling patients with chart review. J Genet Couns 23:323–329CrossRefPubMed Eichmeyer JN, Burnham C, Sproat P, Tivis R, Beck TM (2014) The value of a genetic counselor: improving identification of cancer genetic counseling patients with chart review. J Genet Couns 23:323–329CrossRefPubMed
16.
go back to reference Riley BD, Culver JO, Skrzynia C et al (2012) Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of Genetic Counselors. J Genet Couns 21:151–161CrossRefPubMed Riley BD, Culver JO, Skrzynia C et al (2012) Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of Genetic Counselors. J Genet Couns 21:151–161CrossRefPubMed
17.
go back to reference Robson ME, Bradbury AR, Arun B et al (2015) American Society of Clinical Oncology Policy Statement update: genetic and genomic testing for cancer susceptibility. J Clin Oncol 33:3660–3667CrossRefPubMed Robson ME, Bradbury AR, Arun B et al (2015) American Society of Clinical Oncology Policy Statement update: genetic and genomic testing for cancer susceptibility. J Clin Oncol 33:3660–3667CrossRefPubMed
18.
go back to reference Surgeons ACo. (2014) NAPBC standards manual, pp 1–78 Surgeons ACo. (2014) NAPBC standards manual, pp 1–78
19.
go back to reference Powell CB, Littell R, Hoodfar E, Sinclair F, Pressman A (2013) Does the diagnosis of breast or ovarian cancer trigger referral to genetic counseling? Int J Gynecol Cancer 23:431–436CrossRefPubMed Powell CB, Littell R, Hoodfar E, Sinclair F, Pressman A (2013) Does the diagnosis of breast or ovarian cancer trigger referral to genetic counseling? Int J Gynecol Cancer 23:431–436CrossRefPubMed
20.
go back to reference Bellcross CA, Kolor K, Goddard KA, Coates RJ, Reyes M, Khoury MJ (2011) Awareness and utilization of BRCA1/2 testing among U.S. primary care physicians. Am J Prev Med 40:61–66CrossRefPubMed Bellcross CA, Kolor K, Goddard KA, Coates RJ, Reyes M, Khoury MJ (2011) Awareness and utilization of BRCA1/2 testing among U.S. primary care physicians. Am J Prev Med 40:61–66CrossRefPubMed
21.
go back to reference Brierley KL, Campfield D, Ducaine W et al (2010) Errors in delivery of cancer genetics services: implications for practice. Conn Med 74:413–423PubMed Brierley KL, Campfield D, Ducaine W et al (2010) Errors in delivery of cancer genetics services: implications for practice. Conn Med 74:413–423PubMed
22.
go back to reference Freedman AN, Wideroff L, Olson L et al (2003) US physicians’ attitudes toward genetic testing for cancer susceptibility. Am J Med Genet A 120A:63–71CrossRefPubMed Freedman AN, Wideroff L, Olson L et al (2003) US physicians’ attitudes toward genetic testing for cancer susceptibility. Am J Med Genet A 120A:63–71CrossRefPubMed
23.
go back to reference Whitworth P, Beitsch P, Arnell C et al (2017) Impact of payer constraints on access to genetic testing. J Oncol Pract 13:e47–e56CrossRefPubMed Whitworth P, Beitsch P, Arnell C et al (2017) Impact of payer constraints on access to genetic testing. J Oncol Pract 13:e47–e56CrossRefPubMed
24.
go back to reference Kurian AW, Li Y, Hamilton AS et al (2017) Gaps in incorporating germline genetic testing into treatment decision-making for early-stage breast cancer. J Clin Oncol 35:2232–2239CrossRefPubMed Kurian AW, Li Y, Hamilton AS et al (2017) Gaps in incorporating germline genetic testing into treatment decision-making for early-stage breast cancer. J Clin Oncol 35:2232–2239CrossRefPubMed
Metadata
Title
Impact of an embedded genetic counselor on breast cancer treatment
Authors
Holly J. Pederson
Najaah Hussain
Ryan Noss
Courtney Yanda
Colin O’Rourke
Charis Eng
Stephen R. Grobmyer
Publication date
01-05-2018
Publisher
Springer US
Published in
Breast Cancer Research and Treatment / Issue 1/2018
Print ISSN: 0167-6806
Electronic ISSN: 1573-7217
DOI
https://doi.org/10.1007/s10549-017-4643-4

Other articles of this Issue 1/2018

Breast Cancer Research and Treatment 1/2018 Go to the issue
Webinar | 19-02-2024 | 17:30 (CET)

Keynote webinar | Spotlight on antibody–drug conjugates in cancer

Antibody–drug conjugates (ADCs) are novel agents that have shown promise across multiple tumor types. Explore the current landscape of ADCs in breast and lung cancer with our experts, and gain insights into the mechanism of action, key clinical trials data, existing challenges, and future directions.

Dr. Véronique Diéras
Prof. Fabrice Barlesi
Developed by: Springer Medicine