Genetic counseling by certified genetics professionals is an important part of the cancer treatment cascade for patients at risk for inherited sequence variants. Genetic counseling helps patients ascertain whether genetic testing is appropriate and helps in results interpretation.1,2 For some patients with pathogenic sequence variants, undergoing genetic testing affects treatment decisions and surveillance protocols in the survivorship phase.3 Coverage of genetic counseling varies across commercial insurers, and Medicare allows genetic counseling to be billed only under physician supervision.1 In this study, we aimed to identify total and out-of-pocket costs associated with genetic counseling in a US population of commercially insured adults with cancer and to describe factors associated with experiencing out-of-pocket costs for genetic counseling encounters.
This cohort study was approved by the Vanderbilt University Medical Center Institutional Review Board, which waived the informed consent requirement because we used deidentified data. We followed the STROBE reporting guideline.
We used the IBM Watson Health MarketScan, a nationwide administrative claims database encompassing more than 30 million enrollees in large private insurance plans, to create a cohort of privately insured patients with breast, prostate, endometrial, ovarian, colorectal, or pancreatic cancer who had at least 1 encounter for genetic counseling between January 1, 2013, and December 31, 2019. These cancers have National Comprehensive Cancer Network guidelines for genetic or familial high-risk assessment.4,5 Outpatient genetic counseling encounters were identified using Current Procedural Terminology codes 96040 and S0265 among patients with 2 or more cancer diagnosis codes on 2 different days within the previous year. This method was used to identify individuals likely to have active cancer or to be cancer survivors and to reduce erroneous inclusion of codes for routine cancer screening.
We calculated out-of-pocket costs (sum of coinsurance, copayments, and deductibles) and total costs paid on claims for genetic counseling encounters. Using multivariable adjusted log-binomial regression, we calculated adjusted prevalence ratios (aPRs) for patients with out-of-pocket costs for genetic counseling services compared with those without out-of-pocket costs. SAS Studio (SAS Institute Inc) and α = .05 significance level were used in statistical analysis.
The cohort included 16 791 patients (15 570 women [92.7%], 1221 [7.3%] men), of whom 12 722 had breast, 1417 had colorectal, 1312 had ovarian, 622 had endometrial, 356 had prostate, and 312 had pancreatic cancer. Median (IQR) net payments for genetic counseling encounters were $118 ($58-$211) (Table 1). Most patients with cancer paid $0 for genetic counseling services, and the overall median (IQR) out-of-pocket cost was $0 ($0-$16). In total, 31.1% of patients had an out-of-pocket cost greater than $0. Patients billed under Current Procedural Terminology code S0265 had a lower prevalence of out-of-pocket costs than those billed under code 96040 (aPR, 0.52; 95% CI, 0.47-0.59) Table 2. Compared with patients with breast cancer, those with prostate cancer had a higher prevalence of experiencing out-of-pocket costs for genetic counseling (aPR, 1.28; 95% CI, 1.04-1.57).
Cancer genetic counseling not only promotes informed decision-making about genetic testing and cancer treatment in the era of precision medicine but is also a form of low-cost, high-value care.6 More frequent out-of-pocket costs for patients with prostate cancer may reflect a lack of awareness about the medical necessity of genetic counseling, a disservice given the recent inclusion of aggressive or metastatic prostate cancer in National Comprehensive Cancer Network guidelines.
Study limitations include lack of clinical information such as cancer stage at diagnosis and clinical subtype, which could support the receipt of and insurance payment for genetic counseling. Furthermore, some genetic counseling encounters are not billed for, likely representing the undermeasurement of total service utilization. Although costs for patients were low, because the Centers for Medicare & Medicaid Services does not recognize certified genetic counselors as billable providers, genetic counseling costs may be shifted to health care practices. The findings highlight the relatively low financial costs of genetic counseling, a form of care with potentially substantial implications for cancer treatment.
Accepted for Publication: June 1, 2022.
Published: July 29, 2022. doi:10.1001/jamahealthforum.2022.2260
Correction: This article was corrected on September 2, 2022, to fix a misspelled word in the Discussion section.
Open Access: This is an open access article distributed under the terms of the CC-BY License. © 2022 Roberson ML et al. JAMA Health Forum.
Corresponding Author: Mya L. Roberson, PhD, Vanderbilt University School of Medicine, 2525 West End Ave, Ste 1200, Nashville, TN 37203 (mya.l.roberson@vumc.org).
Author Contributions: Dr Roberson had full access to all of the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis.
Concept and design: Roberson, Hooker, Pal.
Acquisition, analysis, or interpretation of data: Roberson, Padi-Adjirackor, Pal.
Drafting of the manuscript: Roberson, Padi-Adjirackor, Hooker.
Critical revision of the manuscript for important intellectual content: All authors.
Statistical analysis: Roberson.
Obtained funding: Roberson.
Administrative, technical, or material support: Padi-Adjirackor.
Supervision: Roberson, Pal.
Conflict of Interest Disclosures: Dr Hooker reported employment at Concert Genetics. No other disclosures were reported.
Funding/Support: Publication of this study was funded by grant NCI-P30CA068485 received by Dr Roberson from Vanderbilt-Ingram Cancer Center and the National Cancer Institute.
Role of the Funder/Sponsor: The funder had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.
Meeting Presentation: This study was presented at the AcademyHealth Annual Research Meeting, June 6, 2022, Washington, DC.
2.Hallquist
MLG, Tricou
EP, Hallquist
MN,
et al. Positive impact of genetic counseling assistants on genetic counseling efficiency, patient volume, and cost in a cancer genetics clinic.
Genet Med. 2020;22(8):1348-1354. doi:
10.1038/s41436-020-0797-2PubMedGoogle ScholarCrossref 3.Riley
BD, Culver
JO, Skrzynia
C,
et al. Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of Genetic Counselors.
J Genet Couns. 2012;21(2):151-161. doi:
10.1007/s10897-011-9462-x
PubMedGoogle ScholarCrossref 5.Daly
MB, Pal
T, Berry
MP,
et al. Genetic/familial high-risk assessment: breast, ovarian, and pancreatic, version 2.2021, NCCN Clinical Practice Guidelines in Oncology.
J Natl Compr Canc Netw. 2021;19(1):77-102. doi:
10.6004/jnccn.2021.0001
PubMedGoogle ScholarCrossref 6.Stoll
K, Kubendran
S, Cohen
SA. The past, present and future of service delivery in genetic counseling: keeping up in the era of precision medicine.
Am J Med Genet C Semin Med Genet. 2018;178(1):24-37. doi:
10.1002/ajmg.c.31602
PubMedGoogle ScholarCrossref