Table 2.
Reduction of the incidence of expensive diseases with genetic information
| Disease | Incidence | Intervention | Reduction in incidencea,b | Lifetime per patient direct medical costs of disease (USD 2016)c,d | Annual direct medical costs of disease incurred by health system (USD 2016)c,e,f |
|---|---|---|---|---|---|
| Phenylketonuria (PKU) | 1/10,00038 | Dietary treatment with a phenylalanine restricted diet | 92%6 | $32,930/patient (up to 36 years of life)39 | — |
| β-thalassemia major | 1/100,00038 | Reproductive planning | 90%10 | $1,370,182/patient (60 year lifespan)40 | — |
| Cystic fibrosis (CF) | 1/8,000 to 1/10,00038 | Reproductive planning | 65%9 | $511,961/patient (28 year lifespan)41 | — |
| Fragile X syndrome (FXS) | 1/4,000 to 1/5,00038 | Reproductive planning | 47%8 | $679,469/patient (72 year lifespan)42 | — |
| Familial hypercholesterolaemia (FH) | 1/500 for heterozygous dominantly inherited; 1/1,000,000 for homozygous autosomal recessive inherited38 | Prophylactic statin therapy | 51%7 | — | $2,931,345,62243 (per annum) |
| Adverse drug reactions (ADRs) | 2,216,000 hospitalised patients in the US had serious ADRs; 106,000 had fatal ADRs44 1/16 hospitalisations in the UK are a result of ADRs45 | Informed prescribing | 17% (4–30%)17 | — | $242,392,437,33046 (per annum) |
a For PKU percentage refers to the reduction in PKU patients with low IQ (<90)
b For FH percentage refers to the reduction in major adverse cardiovascular events in patients with homozygous FH after receiving lipid-lowering therapy
c All costs were inflated to 2016 prices using country-specific (United Kingdom or United States) OECD all items non-food, non-energy Consumer Price Indexes (http://stats.oecd.org/Index.aspx?DatasetCode=MEI_PRICES) and converted to United States dollars (1 GBP = 1.29 USD) as to report all costs in a common currency and year
d For PKU the cost refers to the per-patient lifetime direct medical costs of a PKU patient that does not receive a phenylalanine restricted diet, thereby representing the direct medical costs of not identifying an individual with PKU
e For FH the cost refers to the annual medical costs of coronary heart disease across all of the United Kingdom, which highlights the magnitude of the direct medical costs that are associated with the condition. The argument being, if prophylactic statin therapy were used in all individuals identified to have either heterozygous or homozygous FH through genomic sequencing, a 51% reduction in the incidence of major cardiovascular events would therefore result in large savings to health care systems in terms of direct medical costs
f For ADRs the cost refers to the annual medical costs of drug-related morbidity and mortality in the United States, which highlights the magnitude of the direct medical costs that are associated with ADRs. Even a modest reduction of 17% in the incidence of these events through more informed prescribing after genomic testing would therefore result in large savings to health care systems in terms of direct medical costs