The technology

MMprofiler (Everything Genetic Ltd) is a prognostic test that uses a sample of a person's bone marrow to determine the risk of disease progression for people with multiple myeloma (newly diagnosed, relapsed or refractory). It uses the bone marrow sample for gene expression profiling of 92 genes.

Bone marrow aspiration is usually done for suspected multiple myeloma. If confirmed, MMprofiler can be used to calculate the person's SKY92 risk score, which is presented as a binary read-out (SKY92 high-risk present or absent). These results should be reviewed with standard care markers to inform healthcare professionals and people with multiple myeloma about the aggressiveness of the disease. The company claims MMprofiler will help healthcare professionals and people with multiple myeloma to choose the optimum combination of treatments.


MMprofiler is reportedly one of the only gene expression profile tests to be developed into a validated clinical test (Shah et al. 2020). The company claims that MMprofiler is the only available technology with a CE-IVD approval for which a significant improvement in risk prediction has been shown compared with standard risk prediction in multiple myeloma.

Current care pathway

Diagnostic testing for multiple myeloma includes a bone marrow aspirate and trephine biopsy with plasma cell phenotyping, and serum protein electrophoresis and serum-free light chain assay. If serum protein electrophoresis is abnormal, serum immunofixation may be used.

Prognostic tests use the same sample provided for diagnostic testing so people only need to have 1 bone marrow aspirate and trephine biopsy. Current prognostic testing for multiple myeloma includes the International Staging System (ISS), a 3‑stage risk classification determined by the serum concentration of beta‑2 microglobulin and albumin. Additionally, fluorescence in-situ hybridisation (FISH) on CD138‑selected bone marrow plasma cells may be done to identify the adverse risk abnormalities t(4;14), t(14;16), 1q gain, del(1p) and del(17p)(TP53 deletion). These abnormalities, together with ISS scores, can be used to identify people with high-risk multiple myeloma.

The following publications have been identified as relevant to this care pathway:

Population, setting and intended user

People with suspected multiple myeloma are referred to secondary care to see a haematologist for further tests. In England, genomic testing is commissioned through the NHS Genomic Medicine Service. The company has applied for MMprofiler to be added to the National Genomic Test Directory. The company states that the clinical implication for treatment based on the SKY92 result is at the discretion of the healthcare professional and person with multiple myeloma.


Technology costs

MMprofiler costs £2,800 per person (excluding VAT). Costs include logistical courier costs to the lab, analysis, and reporting. The company claims it will offer ongoing technical and clinical training as well as customer service support at no additional cost. Costs do not include bone marrow aspirate sampling which is to be done by the healthcare professional.

Costs of standard care

MMprofiler should be used with standard care markers. Costs of diagnostic bone marrow extraction average £564 per unit and range from £249 to £9,666 per unit based on 2020/21 hospital resource group (HRG) tariffs and 2019/20 national schedule of reference costs. The company states the FISH/RISS multiple myeloma panel costs about £550 per test based on information from NHS lab partners.

Resource consequences

MMprofiler has been launched in the UK. It is currently used in the private healthcare sector and in research trials within the NHS.

The company claims that using standardised and reliable prognostic risk markers like MMprofiler can play a role in ensuring the efficient use of healthcare resources. Treatment for multiple myeloma can be complex. There are several drug treatment combinations available with varied treatment intensities and related toxicities. Knowledge of a person's risk of disease progression may therefore help healthcare professionals and people with multiple myeloma in making more informed treatment decisions.

Risk-stratified treatment aims to offer people the appropriate level and combination of treatments to meet their clinical needs. The company suggests this will have several benefits. People with high-risk multiple myeloma may be spared potentially toxic treatment for which the risks outweigh the benefits. There may also be cost savings as people with standard-risk multiple myeloma could have less costly drug treatment regimens than people with high-risk multiple myeloma (Gaultney et al. 2018). Lower toxicities associated with drug treatment combinations for standard-risk multiple myeloma could also result in cost savings because of the lower incidence and treatment of peripheral neuropathy. For people who choose to have treatment, a more aggressive treatment combination can be offered, with higher level of surveillance to improve outcomes. Healthcare teams could allocate resources to people with the highest clinical need, while providing individualised care and support to all.

The company did not foresee any practical challenges associated with adopting MMprofiler. Bone marrow aspirate samples are currently sent by a next day medical express service to a lab in the Netherlands for analysis. The company states there are plans to set up a UK-based end-to-end service with United Kingdom Accreditation Service (UKAS)-accredited labs in the next 6 months. A company-led taskforce with experts in the UK has been established to identify challenges and gaps in realising a patient-centred MMprofiler service.