Table 1.
Near-term induced costs of ACMG SF by gene-condition
| Gene | Potential Medical Action | Potential Medical Action (no induced cost to payer) |
Estimated Per- Case Cost for ACMG 56 SF, 2017 USD |
# of Cases |
Frequency Weight of Total Cases (N=75) |
Weighted Cost | ||
|---|---|---|---|---|---|---|---|---|
| Observed | Recommended | Observed | Recommended | |||||
| BRCA1, BRCA2 | Election to undergo risk-reducing salpingo-oophorectomy, Baseline mammogram, Pelvic ultrasound, Full body skin and eye exam (for melanoma), Pancreatic cancer screening, Clinical breast exam, Digital rectal exam, Blood tests for PSA levels, CA-125 blood test, Clinical visit at specialty center (breast cancer), Primary care physician clinic visit, Genetics clinic visit | Breast self-exam, Other* | $115 | $576 | 21 | 0.3 | $32 | $161 |
| MLH1, MSH2, MSH6, PMS2 | Germline genetic testing for Lynch syndrome, Fully body skin and eye exam (for melanoma), Colonoscopy, Upper endoscopy, Urinalysis, Clinic visit with specialist, Primary care physician clinic visit, Oncologist clinic visit, Genetics clinic visit | Acquisition of medic alert bracelet, Other* | $63 | $435 | 6 | 0.1 | $5 | $35 |
| APC | Colonoscopy, Upper endoscopy, Clinic visit with specialist, Genetics clinic visit | $381 | $381 | 2 | 0.03 | $10 | $10 | |
| RET | Genetic testing for RET, Genetics clinisc visit | $0 | $503 | 1 | 0.01 | $0 | $7 | |
| SDHC | Head and neck MRI with contrast, Troponin lab test, Lipid panel, Creatinine kinase test, 24-hour urine protein test, CT of abdomen and pelvis, Comprehensive blood tests and panels, Primary care physician clinic visit, Cardiogenetics visit, Clinic visit with specialist | Other* | $678 | $1114 | 1 | 0.01 | $9 | $15 |
| FBN1, SMAD3 | Slit-lamp eye exam after fully dilating, Echocardiogram, MRI, CT angiography (chest), Cardiologist clinic visit, Genetics clinic visit | $0 | $679 | 2 | 0.03 | $0 | $18 | |
| MYBPC3, MYH7, TNNT2, TNNI3, MYL3 | Electrocardiogram, Echocardiogram, 24-hour Holter monitor, Troponin lab test, Lipid panel, Genetic testing for MYH7, Generic ACE Inhibitor (i.e., Lisinopril) prescription, Primary care physician clinic visit, Clinic visit at specialty center (hypertrophic cardiomyopathy), Cardiologist clinic visit, Cardiogenetics visit | Other* | $89 | $317 | 9 | 0.1 | $11 | $38 |
| PKP2, DSP, DSG2 | Electrocardiogram, Echocardiogram, 24-hour Holter monitor, Cardiologist clinic visit, Clinic visit at specialty center (hypertrophic cardiomyopathy) | Other* | $152 | $243 | 5 | 0.1 | $10 | $16 |
| KCNQ1, KCNH2, SCN5A | Electrocardiogram, Echocardiogram, 24-hour Holter monitor, Troponin lab test, MRI with gadolinium contrast, Exercise stress test, Familial genetic testing for Long QT syndrome, Primary care physician clinic visit, Cardiologist clinic visit, Genetics clinic visit, Cardiogenetics visit | $226 | $499 | 15 | 0.2 | $45 | $100 | |
| LDLR, APOB | Lipid panel, Statin prescription (Lipitor), Primary care physician clinic visit | $86 | $86 | 5 | 0.1 | $6 | $6 | |
| RYR1, CACNA1S | RYR1 clinical lab genetic test, Primary care physician clinic visit, Clinic visit with specialist (malignant hyperthermia) | Acquisition of medic alert bracelet, Port the risk result into the electronic medical record, Other* | $0 | $141 | 8 | 0.1 | $0 | $15 |
| TOTAL | 75 | 1.0 | ||||||
| Weighted Average Cost, 2017 USD | $128 | $421 | ||||||
Other (Included an action that involved a method of communication that could not be assigned a cost which included the following: Communication with existing cardiologist about whether further work-up was needed; Communicate with gynecologist about ovarian cancer screening; Inform future providers about result; Discussion with primary care physician (PCP) of whether male patient had enough breast tissue to undergo mammogram; ensure that OBGYN is aware of finding; Changes in medical management to occur in adulthood; discuss with family, parents of this individual; (grandparents to proband) recommended to have colonoscopies; Participant shared result with PCP; Participant disclosed results to PCP; disclosed result with living first degree relative)
Bolded text indicates medical action data used for the observed cost calculation