Icd 10 code for family history of brca positive

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Cancer. Author manuscript; available in PMC 2021 Jan 15.

Published in final edited form as:

PMCID: PMC6952576

NIHMSID: NIHMS1050238

Fangjian Guo, MD, PhD,1,2 Matthew Scholl, BS,3 Erika L. Fuchs, PhD, MPH,1,2 Abbey B. Berenson, MD, PhD,1,2 and Yong-Fang Kuo, PhD2,4,5

Abstract

Background:

The discovery of the BRCA gene in the 1990s created an opportunity for individualized cancer prevention. BRCA testing in young women before cancer onset enables early detection of those with increased cancer risk and creates and opportunity to offer life-saving prophylactic procedures and medications. This study assessed trends in BRCA testing in women <40 years old without diagnosed breast or ovarian cancer (unaffected young women, UYW) for cancer prevention between 2006 and 2017 in the US.

Methods:

We included 93278 adult women 18–65 years old with insurance claims for BRCA testing between 2006 and 2017 from the Optum© de-identified Clinformatics© Data Mart Database. The data contained medical claims and administrative information from privately insured individuals in the US. We assessed the proportion of BRCA testing in UYW aged <40 years among adult women aged 18–65 years who received BRCA testing.

Results:

In 2006, only 10.5% of the tests were performed in UYW. The proportion of BRCA tests performed in UYW increased significantly to 25.5% in 2017 (annual percentage change for the 2006–2017 period, 6.9, 95% CI, 6.4–7.3, p<0.001). The increased trend in the proportion of BRCA tests in UYW significantly differed by region of residence and family history of breast or ovarian cancer.

Conclusion:

Over the past decade, there was increased use of BRCA testing for cancer prevention. Additional efforts are needed to maximize the early detection of women with BRCA pathogenic variants so these cancers may be prevented.

Keywords: BRCA testing, unaffected, mutation carrier, pathogenic variant carrier, breast cancer, ovarian cancer, primary prevention

Precis for use in the Table of Contents:

Using administrative claim data from one of the largest health insurance companies, we assessed the use of BRCA testing in unaffected young women (UYW) <40 years of age during 2006–2017 and found that the proportion of UYW receiving testing increased significantly during that period.

However, UYW only made up about 25% of the tests performed among adult women aged 18–65 years in 2017.

Introduction

The identification of BRCA1/BRCA2 pathogenic variants in women susceptible to breast or ovarian cancer in the 1990s created an opportunity for targeted, individualized cancer prevention.1 BRCA1/BRCA2 pathogenic variant carriers are at significantly higher risk for breast and ovarian cancer than the general population.2–5 BRCA testing in young women before cancer onset enables early detection of increased cancer risk and can reduce future cancer morbidity and mortality through risk management strategies. However, risk reduction procedures for BRCA-related cancers can be undertaken only if carriers are identified before cancer onset.6 BRCA testing has been recommended since 2005 by the US Preventive Services Task Force (USPSTF), the National Comprehensive Cancer Network (NCCN), and other professional organizations in women whose family or personal cancer history or whose ethnic backgrounds correlate with an increased likelihood of pathogenic BRCA variants.7, 8

However, BRCA testing is currently performed without strategically targeting high-risk populations prior to cancer diagnosis. Moreover, current recommendations miss a large proportion of carriers with the high-risk pathogenic BRCA variant.9–11 In the United States, only 5.5% unaffected carriers and 29.3% carriers with cancer have been identified.11,12 Most carriers only learn of their status after being diagnosed with breast or ovarian cancer because this is when BRCA testing is typically done.11–13 Identifying the high risk of cancer among carriers after their diagnosis of breast or ovarian cancer is an obvious failure of cancer prevention.14 Early detection of carriers (eg, in their 20s and 30s and before the onset of breast or ovarian cancer) is pivotal to the success of BRCA-related cancer prevention programs,12 because only then will carriers have the opportunity to receive life-saving risk reduction procedures early enough to prevent the onset of cancer. To increase early identification of unaffected carriers eligible for cancer preventive procedures, strategically targeting young women at high-risk for pathogenic BRCA variants is key. The objective of this study was to assess trends between 2006 and 2017 in BRCA testing in young women <40 years old without a diagnosis of breast or ovarian cancer for cancer prevention in the US. Those women are referred in this article as unaffected young women (UYW).

Methods

We analyzed administrative data from the Optum© de-identified Clinformatics© Data Mart Database (Eden Prairie, MN), which contains de-identified insurance claim records on a population representative of the working US population.15, 16 We excluded 7971 women who had <3 months of continuous enrollment before BRCA testing from adult women aged 18–65 years who received BRCA testing between 2006 and 2017, to capture a recent diagnosis of breast or ovarian cancer before the test. A total of 93,278 women were included in the final analyses. This study was not considered as human subjects research by the Institutional Review Board at The University of Texas Medical Branch, Galveston, TX.

Current Procedural Terminology (CPT) codes and Healthcare Common Procedure Coding System (HCPCS) for the BRCA pathogenic variant test (81162, 81211–81217, 81432, 81433, S3818-S3820, S3822, and S3823) were used to identify women who received BRCA testing. Cases of breast cancer diagnosed within 3 months prior to BRCA testing were identified by the International Classification of Diseases, ninth edition (ICD-9) code V10.3 and the International Classification of Diseases, tenth edition (ICD-10) code Z85.3 for personal history of malignant neoplasm of breast, ICD-9 code 174.x and ICD-10 code C50 for malignant neoplasm of female breast, and ICD-9 code 233.0 and ICD-10 code D05 for carcinoma in situ of breast. Cases of ovarian cancer diagnosed within 3 months prior to BRCA testing were identified by ICD-9 code V10.43 and ICD-10 code Z85.43 for personal history of malignant neoplasm of ovary and ICD-9 code 183.0 and ICD-10 code C56 for malignant neoplasm of ovary. Family history of breast cancer was identified by ICD-9 code V16.3 and ICD-10 code Z80.3. Family history of ovarian cancer was identified by ICD-9 code V16.41 and ICD-10 code Z80.41.

Statistical Analysis

We assessed linear trends in the proportion of BRCA tests in UYW among adult women (18–65 years of age) from 2006 to 2017. Annual percentage change (APC) was calculated as (exp(β)-1)×100. A least squares regression line was fitted to the natural logarithm of the annual rates to estimate the regression coefficient (β). Subgroup analyses were performed in regions and in women with/without a family history of breast/ovarian cancer. Statistical analyses were conducted using SAS software version 9.4 (SAS Institute; Carey, NC).

Results

Characteristics of adult women who received BRCA testing, by year in which the test was performed, is presented in Supplemental Table 1. Among 93278 women who received BRCA testing during 2006–2017, 50.0% of UYW resided in the South, 11.5% in the Northeast, 18.4% in the Midwest, and 20.1% in the West; 47.0% of other women (cancer patients or unaffected women ≥40 years of age) resided the South, 11.9% in the Northeast, 20.7% in the Midwest, and 20.3% in the West (Table 1). Family histories of breast or ovarian cancer were more prevalent in UYW than other women (86.4% vs 71.3% for breast cancer, p<0.001, and 39.1% vs 26.1% for ovarian cancer, p<0.001).

Table 1.

Characteristics among women who received BRCA testing.

Prevalence % (95% CI)
n (%)UYWOthersp value
n 93278(100) 20082 73196
Region of Residence
 South 44270(47.7) 50.0 (49.3–50.6) 47.0 (46.7–47.4) <0.001
 Northeast 10970(11.8) 11.5 (11.1–11.9) 11.9 (11.7–12.1)
 Midwest 18787(20.2) 18.4 (17.9–19.0) 20.7 (20.4–21.0)
 West 18848(20.3) 20.1 (19.5–20.7) 20.3 (20.1–20.6)
Family History of
Breast Cancer 69555(74.6) 86.4 (85.9–86.9) 71.3 (71.0–71.6) <0.001
Ovarian Cancer 26990(28.9) 39.1 (38.5–39.8) 26.1 (25.8–26.5) <0.001
Breast or Ovarian Cancer 77367(82.9) 97.1 (96.9–97.3) 79.1 (78.8–79.3) <0.001
Breast and Ovarian Cancer 19178(20.6) 28.4 (27.8–29.1) 18.4 (18.1–18.7) <0.001

In 2006, only 10.5% of the tests were performed in UYW, while 89.5% of the tests were performed in cancer patients or unaffected women ≥40 years (Figure 1). The proportion of BRCA tests performed in UYW increased significantly to 25.5% in 2017 (annual percentage change for the 2006–2017 period, 6.9, 95% confidence interval 6.4–7.3, p<0.001, Table 2). The increase in the proportion of BRCA tests in UYW were found in each region of residence examined (Figure 1), and in women with or without diagnosed or personal history of breast or ovarian cancer (Figure 2).

Icd 10 code for family history of brca positive

Percentage of BRCA testing performed in unaffected young women <40 years old among women who received BRCA testing.

A. All women; B. By region of residence.

Icd 10 code for family history of brca positive

Unaffected young women <40 years old among women who received BRCA testing by family history of breast or ovarian cancer.

A. By family history of breast cancer; B. By family history of ovarian cancer; C. By family history of breast or ovarian cancer; D. By family history of breast and ovarian cancer.

Table 2.

The annual percentage change (APC) in the proportion of UYW among those who received BRCA testing (N=93278).

APC (95% CI)
All 6.9(6.4–7.3)
Region of Residence
 South 7.3(6.7–7.9)
 Northeast 5.4(4.2–6.6)
 Midwest 6.3(5.3–7.4)
 West 7.8(6.7–8.9)
Family History of
Breast Cancer 6.7(6.2–7.1)
Ovarian Cancer 5.4(4.7–6.1)
Breast or Ovarian Cancer 6.8(6.3–7.2)
Breast and Ovarian Cancer 4.9(4.1–5.7)

The distribution of the percentage of UYW among adult women who received BRCA testing in 2017 by state is displayed on a US map (Figure 3). There were significant regional differences in the use of BRCA testing among UYW (Supplemental Table 2). The Midwest had the lowest percentage of UYW who received testing out of total BRCA tests, while the South had the highest percentage.

Icd 10 code for family history of brca positive

Percentage of unaffected young women <40 years old among women who received BRCA testing in 2015–2017 by state.

Discussion

Using administrative claim data from over 90000 adult women, we assessed BRCA testing in UYW from 2006 to 2017 and found that the proportion of UYW receiving testing increased significantly during that period. However, UYW made up about 25% of the tests performed in 2017. With only a small portion of total BRCA tests being performed in UYW, it is not surprising that the majority of unaffected carriers of BRCA pathogenic variants in the US remain unidentified.11 Furthermore, increased BRCA testing in UYW may not necessarily lead to increased identification of unaffected women with BRCA positive results, as unaffected women with low risk for BRCA pathogenic variant may receive BRCA testing and contribute to a low yield of the test.

Carriers of a BRCA pathogenic variant have a significantly elevated risk of developing breast and ovarian cancer.3–5, 17 This makes BRCA testing and genetic counseling crucial for the identification of women with high-risk BRCA pathogenic variants and for directing these women towards potential preventive care, which includes options like intensified screening, chemoprevention, and prophylactic surgery.18–20 Currently, genetic testing is recommended only for women with increased risk for BRCA pathogenic variants as determined by their family or personal histories of cancer or ethnic backgrounds.7, 8 However, these clinical criteria and practice guidelines21–24 for BRCA testing allow for the identification of only a small percentage of the total high-risk variant carriers in the general population.9 The majority of BRCA carriers in the US remain unidentified,11 even though early detection of pathogenic variant carriers is crucial to the success of cancer prevention programs.12 Current testing criteria inhibit equal access to genetic information and prevent carriers from accessing potentially life-saving information and thus making informed decisions about undertaking preventative care. Lack of referrals for genetic counselling and testing among ineligible carriers results in missed opportunities for cancer prevention.

Genetic testing in breast or ovarian cancer patients is beneficial in several ways, because the determination of the presence or absence of high-risk variations may guide a patient’s choice of specific treatment options and predict their prognosis more accurately.19, 25–29 Additionally, BRCA carriers diagnosed with only one type of cancer (breast or ovarian) may benefit from preventing other cancers they are predisposed to developing. Finally, genetic testing in breast or ovarian cancer patients allows their blood relatives to benefit from cascade testing and subsequent cancer prevention choices. The many benefits to patients associated with knowledge of their BRCA status has led to the proposal and evaluation of expanding current testing criteria to include all women with breast or ovarian cancer.30–32 Yet, the current price of $2000–$4000 per test would pose a great financial burden to patients with limited resources, especially those with no insurance coverage. Despite the benefits of BRCA testing, many at-risk relatives of BRCA pathogenic variant carriers are not informed, and even informed at-risk relatives of an identified pathogenic variant carrier often do not undergo genetic testing.33, 34 Furthermore, under the current testing criteria most young female breast cancer patients will not qualify to undergo BRCA testing before their cancer diagnosis.30, 35, 36 While universal screening for pathogenic variants in cancer patients would likely improve their individual outcomes, the low uptake of genetic testing even among relatives means that universal screening in cancer patients will likely not improve the underdetection situation of BRCA pathogenic variants in UYW.

While underscreening is a problem among some high risk women,11–12 overuse of BRCA testing among those at low risk for BRCA pathogenic variants also occurs. This is due, in part to widespread direct-to-consumer marketing for genetic testing which has increased consumer interest and women’s self-referrals.37–41 It is estimated that 60%–80% of patients who are tested fail to meet the USPSTF guidelines.42 Harmful social and psychological effects of detection on carriers of BRCA pathogenic variants should also be noted. Identified carriers and their families may face negative social consequences.43 Moreover, anxiety about the future is a common consequence, and making decisions about lifesaving, but life-altering, surgical prophylaxis can be highly stressful, especially in young women. Clinicians and genetic counselors employing non-determinist, nondiscriminatory approaches may help address potential negative psychosocial repercussions for carriers of BRCA pathogenic variants and their family members.

The data source is a main strength of this study. We used administrative data from a large national sample in the US, representative of the working US population.15, 16 This study has several limitations. First, its findings may not be generalizable to people not covered by private insurance. For example, BRCA testing in uninsured young women or young women covered by Medicaid may not be similar to testing patterns observed in this study. Moreover, there was not a way to include patients who were offered BRCA testing but declined due to economic concern, fear of positive results, or other reasons. Cost and lack of insurance may also inhibit access to genetic services by the underserved. In addition, BRCA test results were not available. Family history of breast or ovarian cancer was also under documented in claims data. There was also inadequate information on family history of breast or ovarian cancer to evaluate whether BRCA testing in those UYW in this study met testing guideline requirements. Based on data in this study, it remains unclear if the increasing proportion of testing in UYW has resulted in increased identification of women with BRCA pathogenic variants or is even appropriate based on current testing guidelines. Furthermore, documentation of breast or ovarian cancer diagnosis or personal history is not complete for every individual in the dataset. Some breast or ovarian cancer patients may not have their cancer diagnosis or personal history of cancer documented within 3 months prior to BRCA testing. This may lead to the overestimation of the proportion of testing performed in UYW. However, the proportion of UYW is very low in this study, and considering the overestimation, the actual proportion would be even lower, calling for actions to target increasing BRCA testing for cancer prevention.

Despite a significant increase in the proportion of UYW among women receiving BRCA testing, only about 25% of the tests in 2017 were performed in UYW. This increased proportion of tests performed in UYW should be interpreted with caution as it does not necessarily indicate an improvement in the identification of women with pathogenic variants. BRCA testing in young women enables early detection of cancer risk and subsequently life-saving prophylactic procedures. To maximize the early detection of unaffected BRCA carriers, tremendous efforts are needed to integrate resources on all levels (policy, institution, provider, community, and individuals) and to target barriers to the recommendation and uptake of genetic testing.

Supplementary Material

Supp TableS1-2

ACKNOWLEDGMENTS

Part of the results were presented at the 145th American Public Health Association Annual Meeting and Exposition. Atlanta, GA. November 4–8, 2017, and the 11th AACR-JCA Joint Conference on Breakthroughs in Cancer Research: From Biology to Precision Medicine. Maui, Hawaii. February 8 −12, 2019.

Primary Funding Sources: Dr. Guo is currently supported by the National Cancer Institute of the NIH under Award Number K07CA222343. Dr. Guo was and Dr. Fuchs is supported by a research career development award (K12HD052023: Building Interdisciplinary Research Careers in Women’s Health Program-BIRCWH; Berenson, principal investigator) from the Office of Research on Women’s Health and the Eunice Kennedy Shriver National Institute of Child Health and Human Development at NIH when the study was initially performed. The content is solely the responsibility of the authors and does not necessarily represent the official views of NIH.

Role of the Funder/Sponsor: The sponsors had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; and preparation, review, or approval of the manuscript, and decision to submit the manuscript for publication.

Footnotes

Financial Disclosures: The authors have no conflict of interest to disclose.

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What is the ICD

BRCA1 and/or 2 positive results are assigned either ICD-10-CM code Z15. 01 Genetic susceptibility to malignant neoplasm of breast or Z15. 02 Genetic susceptibility to malignant neoplasm of ovary, depending on family history.

What is the diagnosis code for Family history of breast cancer?

Breast Cancer ICD-10 Code Reference Sheet.

What is Z15 89 code?

ICD-10 code Z15. 89 for Genetic susceptibility to other disease is a medical classification as listed by WHO under the range - Factors influencing health status and contact with health services .

Can Z15 89 be a primary diagnosis?

Codes from category Z15 should not be used as principal or first-listed codes. If the patient has the condition to which he/she is susceptible, and that condition is the reason for the encounter, the code for the current condition should be sequenced first.