Eligibility criteria in private and public coverage policies for BRCA genetic testing and genetic counseling

1586 Background: The U.S. Preventive Services Task Force (USPSTF) recommends that women who meet family history criteria for hereditary breast and ovarian cancer (HBOC) be referred for genetic counseling. However, HBOC genetic testing is under-utilized, particularly among racial/ethnic minorities. We evaluated different methods of family history intake, including a validated family history screener, documentation in the electronic health record (EHR), and a web-based decision aid (DA). Methods: Among women undergoing screening mammography, we administered a validated family history screener to determine eligibility for BRCA genetic testing based upon USPSTF guidelines. We developed a patient-centered DA ( RealRisks) which includes modules on breast cancer risk, collection of detailed family history, and information on HBOC genetic testing. Women who met high-risk criteria for breast cancer were enrolled in an intervention trial to determine whether exposure to RealRisks increases referrals for high-risk consultations. BRCA genetic counseling/testing uptake was assessed by self-report and EHR review. Results: From November 2014 to June 2016, 3077 women completed the family history screener. Median age was 59 years (range, 29-99), including 76% Hispanic, 4% Ashkenazi Jewish, and 60% with a high school education or less. 12% met family history criteria for BRCA genetic testing based upon the family history screener, of which only 5.9% had previously undergone genetic counseling or testing. Sixty high-risk women were enrolled to access RealRisks. When family histories based upon the screener, DA, and EHR were compared, 12 (20%) had discrepancies in number of affected relatives, type of cancer, and age at diagnosis which changed eligibility for BRCA testing. Follow-up is ongoing to determine whether the DA facilitates appropriate referrals for genetic counseling. Conclusions: In a population of predominantly Hispanic and less educated women, a large proportion met USPSTF family history criteria for BRCA testing, but uptake of genetic counseling was low. Developing decision support for accurate family history intake is critical to identifying appropriate candidates for genetic referrals.

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Large, Prospective Analysis of the Reasons Patients Do Not Pursue BRCA Genetic Testing Following Genetic Counseling

Journal of Genetic Counseling ◽

10.1007/s10897-016-0064-5 ◽

2017 ◽

Vol 26 (4) ◽

pp. 859-865 ◽

Cited By ~ 13

Author(s):

Sommer Hayden ◽

◽

Sarah Mange ◽

Debra Duquette ◽

Nancie Petrucelli ◽

...

Keyword(s):

Genetic Counseling ◽

Genetic Testing ◽

Prospective Analysis ◽

Brca Genetic Testing

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Present issues regarding BRCA genetic testing and genetic counseling in medical care for HBOC patients in Japan

Annals of Oncology ◽

10.1093/annonc/mdz342.002 ◽

2019 ◽

Vol 30 ◽

pp. vi52

Author(s):

Shozo Ohsumi

Keyword(s):

Genetic Counseling ◽

Genetic Testing ◽

Medical Care ◽

Brca Genetic Testing

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National Estimates of Genetic Testing in Women With a History of Breast or Ovarian Cancer

Journal of Clinical Oncology ◽

10.1200/jco.2017.73.6314 ◽

2017 ◽

Vol 35 (34) ◽

pp. 3800-3806 ◽

Cited By ~ 112

Author(s):

Christopher P. Childers ◽

Kimberly K. Childers ◽

Melinda Maggard-Gibbons ◽

James Macinko

Keyword(s):

Ovarian Cancer ◽

Genetic Testing ◽

Unmet Need ◽

Cancer Control ◽

The United States ◽

Eligibility Criteria ◽

Cross Sectional ◽

Age Of Diagnosis ◽

History Of ◽

Interview Survey

Purpose In the United States, 3.8 million women have a history of breast (BC) or ovarian cancer (OC). Up to 15% of cases are attributable to heritable mutations, which, if identified, provide critical knowledge for treatment and preventive care. It is unknown how many patients who are at high risk for these mutations have not been tested and how rates vary by risk criteria. Methods We used pooled cross-sectional data from three Cancer Control Modules (2005, 2010, 2015) of the National Health Interview Survey, a national in-person household interview survey. Eligible patients were adult females with a history of BC and/or OC meeting select 2017 National Comprehensive Cancer Network eligibility criteria on the basis of age of diagnosis and family history. Outcomes included the proportion of individuals reporting a history of discussing genetic testing with a health professional, being advised to undergo genetic testing, or undergoing genetic testing for BC or OC. Results Of 47,218 women, 2.7% had a BC history and 0.4% had an OC history. For BC, 35.6% met one or more select eligibility criteria; of those, 29.0% discussed, 20.2% were advised to undergo, and 15.3% underwent genetic testing. Testing rates for individual eligibility criteria ranged from 6.2% (relative with OC) to 18.2% (diagnosis ≤ 45 years of age). For OC, 15.1% discussed, 13.1% were advised to undergo, and 10.5% underwent testing. Using only four BC eligibility criteria and all patients with OC, an estimated 1.2 to 1.3 million individuals failed to receive testing. Conclusion Fewer than one in five individuals with a history of BC or OC meeting select National Cancer Comprehensive Network criteria have undergone genetic testing. Most have never discussed testing with a health care provider. Large national efforts are warranted to address this unmet need.

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A framework for the evaluation of patients with congenital facial weakness

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-021-01736-1 ◽

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.

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Assessment of genetic referrals and outcomes for women with triple negative breast cancer in regional cancer centres in Australia

Hereditary Cancer in Clinical Practice ◽

10.1186/s13053-021-00176-z ◽

2021 ◽

Vol 19 (1) ◽

Author(s):

Lucie G. Hallenstein ◽

Carol Sorensen ◽

Lorraine Hodgson ◽

Shelly Wen ◽

Justin Westhuyzen ◽

...

Keyword(s):

Breast Cancer ◽

Genetic Testing ◽

Triple Negative Breast Cancer ◽

Triple Negative ◽

Cancer Genetics ◽

Eligibility Criteria ◽

Pathogenic Variants ◽

Genetics Services ◽

Age Of Diagnosis ◽

Over Time

Abstract Background Guidelines for referral to cancer genetics service for women diagnosed with triple negative breast cancer have changed over time. This study was conducted to assess the changing referral patterns and outcomes for women diagnosed with triple negative breast cancer across three regional cancer centres during the years 2014–2018. Methods Following ethical approval, a retrospective electronic medical record review was performed to identify those women diagnosed with triple negative breast cancer, and whether they were referred to a genetics service and if so, the outcome of that genetics assessment and/or genetic testing. Results There were 2441 women with newly diagnosed breast cancer seen at our cancer services during the years 2014–2018, of whom 237 women were diagnosed with triple negative breast cancer. Based on age of diagnosis criteria alone, 13% (31/237) of our cohort fulfilled criteria for genetic testing, with 81% (25/31) being referred to a cancer genetics service. Of this group 68% (21/31) were referred to genetics services within our regions and went on to have genetic testing with 10 pathogenic variants identified; 5x BRCA1, 4x BRCA2 and × 1 ATM:c.7271 T > G. Conclusions Referral pathways for women diagnosed with TNBC to cancer genetics services are performing well across our cancer centres. We identified a group of women who did not meet eligibility criteria for referral at their time of diagnosis, but would now be eligible, as guidelines have changed. The use of cross-discipline retrospective data reviews is a useful tool to identify patients who could benefit from being re-contacted over time for an updated cancer genetics assessment.

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Identification and management of familial breast cancer in Austria

Hormone Molecular Biology and Clinical Investigation ◽

10.1515/hmbci-2017-0025 ◽

2017 ◽

Vol 32 (2) ◽

Cited By ~ 1

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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Effectiveness of the Interventions Utilized in Genetic Counseling

Advances in Nursing ◽

10.1155/2014/725968 ◽

2014 ◽

Vol 2014 ◽

pp. 1-19 ◽

Cited By ~ 4

Author(s):

Jeeyae Choi ◽

Hyeoneui Kim

Keyword(s):

Genetic Counseling ◽

Genetic Testing ◽

Information Technologies ◽

Decision Aids ◽

Healthcare Providers ◽

Experimental Studies ◽

Well Being ◽

Diagnostic Tools ◽

Effective Decision ◽

Single Intervention

Background. Advances in genetic science and biotechnology accumulated huge knowledge of genes and various genetic tests and diagnostic tools for healthcare providers including nurses. Genetic counseling became important to assist patients making decisions about obtaining genetic testing or preventive measures. Method. This review was conducted to describe the counseling topics, various interventions adopted in genetic counseling, and their effectiveness. Experimental studies (N=39) published between 1999 and 2012 were synthesized. Results. The most frequently covered topic was benefits and limitations of genetic testing on breast cancer ovarian and colorectal cancers. Most of researchers focused on evaluating cognitive aspect and psychological well-being. Conclusion. No single intervention was consistently reported to be effective. Decision aids enhanced with information technologies have potential to improve the outcomes of genetic counseling by providing tailored information and facilitating active engagement of patients in information uptake. Clinical Implication. When nurses are familiar with topics and interventions of genetic counseling, they are well positioned to provide genetic/genomic information to the patient and families.

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