Hematology

The widespread use of genome sequencing and genomic profiling has significantly improved the diagnoses and treatment of hematologic diseases by identifying unique variants that can be targeted with gene-based therapeutic approaches including immunotherapies. Combined with classical blood analyses, patient- and disease-specific information offers a rich set of tools for precision medicine to prevent, diagnose and treat a disease. Applying those principles, Metadvice selected specific diseases to enables personalized care in the form of a more accurate diagnostic and a therapy that is tailored to the specificity of the patient rather than a generic disease.

Multiple Myeloma

Blood smear with MM Overview. Multiple myeloma is a cancer that forms in a type of white blood cell called a plasma cell. Plasma cells help you fight infections by making antibodies that recognize and attack germs. Multiple myeloma causes cancer cells to accumulate in the bone marrow, where they crowd out healthy blood cells. Rather than produce helpful antibodies, the cancer cells produce abnormal proteins that can cause complications. Treatment for multiple myeloma isn't always necessary for people who aren't experiencing any signs or symptoms. For people with multiple myeloma who require treatment, a number of treatments are available to help control the disease.

Diagnostic. Multiple Myeloma (MM) can be difficult to diagnose. To form an accurate diagnosis, doctors will rely on a number of factors, including physical evaluation, symptoms, medical history, and the results of many different diagnostic tests. The initial evaluation to help confirm a diagnosis of multiple myeloma includes blood and urine tests as well as a bone marrow biopsy. Genome sequencing provide additional information about the mutations that are specific to the cancer. Additional tests include X-rays, magnetic resonance imaging (MRI) and computed tomography (CT) scans.

Treatment. Depending on the generic profile of the cancer and the eligibility for hematopoietic stem cell transplantation (HTC), proteasome inhibitors such as bortezomib (Velcade), carfilzomib (Kyprolis), Ixazomib (Ninlaro) and lenalidomide (Revlimid) can be used in different treatment cycles and combinations.

Precision Medicine. The risk of the disease, the efficacy and the cost of the treatment, its side-effects and individual preferences provide a fertile ground to learn from the journey that has been experienced by other patients who share similar traits and serve as a basis on which Metadvice's recommendations are built on to point out existing clinical trials to try experimental treatments or new combinations of known therapies.

Myelodysplastic Syndromes

Overview. Blood smear with MDS Myelodysplastic syndromes are a group of disorders caused by poorly formed blood cells or ones that don't work properly. Myelodysplastic syndromes result from something amiss in the spongy material inside your bones where blood cells are made (bone marrow). Treatment for myelodysplastic syndromes usually focuses on reducing or preventing complications of the disease and its treatments. In some cases, treatment might involve chemotherapy or a bone marrow transplant.

Diagnostic. Diagnostic Tree Myelodysplastic syndrome (MDS) can be difficult to diagnose. A complete blood count (CBC) will generally be performed in response to sign of anemia (headache, paleness and fatigue), neutrophenia (susceptibility to infections) and trombocytopenia (buising, nosebleed), providing first signs of the disease. A hematologist will also look at the blood sample under a microscope in a test called a blood smear to identify any abnormal cell shapes and sizes. If blood tests do not show another reason for the abnormal blood counts, samples of your bone marrow can be examined in order to perform cytogenetic analysis (chromosome changes), histochemistry (cellular malfunctions), flow cytometry (development of bone marrow), fluorescent in situ hybridization (FISH, to detect changes in specific genes or parts of chromosomes) and in-depth studies using next generation sequencing (NGS, specific mutations).

Treatment. Diagnostic Tree The goal often is to slow the disease progression and to manage its symptoms. This is sometimes achieved with blood transfusions (to replace red/white cells, platelets), bone marrow (stem cell) transplants. Medications are used to trigger the generation of red blood cells with epoetin (Epogen) / white blood cells with filgrastim (Neupogen), to stimulate blood cells to mature with azacitidine (Vidaza) and decitabine (Dacogen) and, under certain genetic conditions, lenalidomide (Revlimid).

Precision Medicine. The risk of the disease, the efficacy and the cost of the treatment, its side-effects and individual preferences provide a fertile ground to learn from the journey that has been experienced by other patients who share similar traits and serve as a basis on which Metadvice's recommendations are built on to point out existing clinical trials to try experimental treatments or new combinations of known therapies.

Acute Myelogenous Leukemia

Overview. Blood smear with AML Acute myelogenous leukemia (AML) is a cancer of the blood and bone marrow — the spongy tissue inside bones where blood cells are made. The word "acute" in acute myelogenous leukemia denotes the disease's rapid progression. It's called myelogenous (my-uh-LOHJ-uh-nus) leukemia because it affects a group of white blood cells called the myeloid cells, which normally develop into the various types of mature blood cells, such as red blood cells, white blood cells and platelets. Acute myelogenous leukemia is also known as acute myeloid leukemia, acute myeloblastic leukemia, acute granulocytic leukemia and acute nonlymphocytic leukemia.

Diagnostic. Diagnostic Tree Acute Myelogenous Leukemia (AML) can be difficult to diagnose. A complete blood count (CBC) will generally be performed in response to sign of anemia (headache, paleness and fatigue), neutrophenia (susceptibility to infections) and trombocytopenia (buising, nosebleed), providing first signs of the disease. If blood tests do not show another reason for the abnormal blood counts, samples of your bone marrow can be examined in order to perform cytogenetic analysis (chromosome changes), histochemistry (cellular malfunctions), flow cytometry (development of bone marrow), fluorescent in situ hybridization (FISH, to detect changes in specific genes or parts of chromosomes) and in-depth studies using next generation sequencing (NGS, specific mutations). The cancer cells in AML (called blasts) are bigger than normal white blood cells and have more trouble going through tiny blood vessels. If the blast count gets very high, these cells can clog up blood vessels and make it hard for normal red blood cells (and oxygen) to get to tissues. This is called leukostasis and is a medical emergency that needs to be treated right away.

Treatment. Therapy Tree This generally starts with a remission induction therapy where a majority of the cancerous blasts are killed, followed by a maintenance therapy aimed at destroping the remaining leukemia cells to decrease the risk of relapse. Chemotherapy is the major form of remission induction therapy, though it can also be used for consolidation therapy. Depending on the genetic profile, targeted therapy drugs can attack specific cancer cell vulnerabilities with midostaurin (Rydapt). Arsenic trioxide (Trisenox) and all-trans retinoic acid (ATRA) can be used alone or in combination with chemotherapy for certain subtypes of AML. When possible, those treatments are generally complemented with a bone marrow transplant to help re-establish healthy stem cells.

Precision Medicine. The risk of the disease, the efficacy and the cost of the treatment, its side-effects and individual preferences provide a fertile ground to learn from the journey that has been experienced by other patients who share similar traits and serve as a basis on which Metadvice's recommendations are built on to point out existing clinical trials to try experimental treatments or new combinations of known therapies.

Chronic Lymphotic Leukemia

Overview. This is the most common leukemia in adults. It's a type of cancer that starts in cells that become certain white blood cells (called lymphocytes) in the bone marrow. When one of these cells changes and becomes a leukemia cell, it no longer matures the way it should and grows out of control. Often, it divides to make new cells faster than normal. Leukemia cells also don't die when they should. This allows them to build up in the bone marrow, crowding out normal cells. At some point, leukemia cells leave the bone marrow and spill into the bloodstream. This increases the number of white blood cells in the blood. Once in the blood, leukemia cells can spread to other organs, where they can prevent other cells in the body from functioning normally.

Diagnostic. Diagnostic Tree To diagnose chronic lymphotic leukemia, doctors will generally perform tests to count the number of B-cells (one type of lymphocyte) in a blood sample, determine the type of lymphocytes involved with a test called flow cytometry or immunophenotyping to determine if the increased number of lymphocytes is the result of an infection, and analyze lymphocytes for genetic abnormalities with a test called fluorescent in situ hybridisation (FISH).

Treatment. Treatment Tree People with early-stage chronic lymphocytic leukemia typically don't receive treatment, or when they do only through clinical trials. Studies have shown that early treatment doesn't extend lives for people with early-stage chronic lymphocytic leukemia. In intermediate / advanced stages, treatments include chemotherapy (single or combination od drugs), immunotherapy or occasionally bone marrow transplants.

Precision Medicine. The risk of the disease, the efficacy and the cost of the treatment, its side-effects and individual preferences provide a fertile ground to learn from the journey that has been experienced by other patients who share similar traits and serve as a basis on which Metadvice's recommendations are built on to point out existing clinical trials to try experimental treatments or new combinations of known therapies.