Benefit to using genetic information as part of surgical decisions |
Genetic testing could help clarify patient’s cancer risks. |
Prophylactic salpingo-oophorectomy and bilateral mastectomy are reasonable risk-reducing surgeries for a woman with a BRCA1 mutation. |
Colectomy is warranted in this patient based on his colonic polyp phenotype. |
Insurance may be more likely to cover prophylactic surgery if she is found to have a specific hereditary cancer predisposition. |
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Legal protections from discrimination |
Patient is most likely protected by GINA, HIPAA, ACA, and applicable state laws. |
GINA makes it illegal for most employers to use her BRCA1 mutation status to terminate her employment. |
The ACA makes it illegal for most health insurance companies to use his clinical diagnosis of polyposis as a pre-existing condition to deny him health insurance coverage in the future. |
Her health insurance policy would be prohibited from using her genetic test results to alter or terminate her coverage. |
In most situations, her employer cannot require her to reveal information regarding her BRCA1 positive status. |
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Exceptions to legal protection |
If patient receives her health insurance through one of the entities not covered by GINA (table 3), there may be other protections in place that would apply (on the state level or through her insurance provider). |
If patient is in the military, or works for an employer with fewer than 15 employees, she could be at risk for genetic discrimination by her employer. |
The ACA should allow him to receive coverage by a health insurance plan in the future (either through an employer or via an individual policy). |
Medical management options |
Patient’s father would be the ideal person in the family to first pursue genetic testing. |
Salpingo-oophorectomy is recommended as there is no current effective screening for ovarian cancer. |
Genetic testing could potentially clarify his type of polyposis (likely FAP or MAP). |
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Breast cancer screening with mammogram and MRI is a reasonable alternative. |
Medical insurance more likely to cover additional screening for associated cancers (upper GI, etc.) when genetic diagnosis can be made. |
Other considerations |
If her father tests positive for a hereditary cancer predisposition, genetic testing for your patient will be more targeted, less costly, and more likely covered by her insurance |
Filing for FMLA for her surgery recovery period would further help to secure her employment. |
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