new mandatory data items: genetics and brca · genetic definitions • mutation: a change in the...
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New mandatory data items: Genetics and BRCA
Samantha Greenberg, MS, MPH, CGCMcCall Larson, MS, CGC
Genetics 101
Genetic definitions
• Mutation: A change in the DNA that does not produce protein correctly, increasing cancer risk
• i.e. positive result, pathogenic variant, deleterious mutation
• Variant of uncertain significance: A change in the DNA with unclear impact on protein
• Typically re-classified as NOT a mutation• Germline: occurring in all cells of the body,
an inheritable change• Heterozygous: One copy of the gene has a
mutation Negative test result
A
Positive test result
?
A
Uncertain significance
BRCA cancer risks
• BRCA2• Breast: 50-85%• Ovarian: 20-30%• Prostate 20% (more aggressive)• Male breast: 6-8% • Pancreatic: 5-7%• Melanoma: 2%
• BRCA1• Breast – 46-87%• Ovarian – 39-63%• Prostate – 16%• Male Breast – 1.2%• Pancreatic - Elevated
• General population risks• Breast – 12%• Ovarian – 1.4%• Prostate – 12%• Male Breast - <0.1%• Pancreatic – 1.4%
When might my patient benefit from genetic evaluation?
• Multiple cancers on one side of the family
• 2 or more – Breast, ovarian, prostate, pancreatic
• 2 or more – colorectal, endometrial, ovarian, gastric
• Rare cancers• Any presentation at any age of:
• Ovarian cancer• Pancreatic adenocarcinoma• Bilateral breast cancer• Male breast cancer• 10 or more colon polyps• Osteosarcoma• Adrenal cortical carcinoma• Paraganglioma/pheochromocytoma
• Ashkenazi Jewish ancestry
• Young cancers• Under age 50
• Breast• Colorectal• Endometrial
Specifically, for HBOC data fields:
• Eligible cases include those meeting the following criteria:
• Female breast cancer cases diagnosed at age 60 or younger (invasive and ductal carcinoma in situ breast cancer)
• All male breast cancer cases diagnosed at any age (invasive and ductal carcinoma in situ breast cancer)
• All invasive ovarian/fallopian tube/primary peritoneal cancer cases diagnosed at any age
Hereditary Breast and Ovarian Cancer RISK MANAGEMENT
Genetic Testing – Changing Times
Shift from single gene testing to multi-gene testing at similar costs Quality multi-gene panel testing lower than
BRCA1/2 costs in 2013
More genes have NCCN guidelines for cancer risk management
Ability to identify new causative genes in strong family histories that allow for cost savings in family members
What happens at a Genetic Counseling Appointment?
• Gather personal medical history• Age at menarche, age at first birth, colonoscopy results, etc.
• Gather family history of cancer• Hereditary vs. familial vs. sporadic• Genetic risk assessment• Genetic testing options
• Education• Results• Medical management
How to locate genetic counseling referral
Who might refer to a genetic counselor?• Genetic counselor• Surgeon/oncologist• OB/GYN or PCP
Where to find:• HCI: Under referrals tab in EPIC or in oncologist/surgeon notes• IHC:
• HELP2 – Genetic Counseling note• iCentra – Genetic Counseling note/consult
Tips on finding and reading testing reports
• Focus on the first page of the report• Some reports have distinct colors for positive and negative results• Interpretation or summary will list cancer risks• Not all reports are in the EMR
• Intermountain• Transition between genetic counselors• Ordered by physician• Transition to new EMR
• HCI• Most reports are in media• Look in oncology or for genetic counseling notes
• Referral may come later due to new guidelines or treatment timing
Negative test result
Negative result
Positive test result
Positive test result
Uncertain test result
Uncertain test result
