May 17, 2021 08:00:00

How to check your genes for free to find out about your health risks?

Medicine has developed treatment methods that are common to many human beings over the years, but in reality, even if the same treatment method is used, there are individual differences in the effects due to differences in constitution.

Therefore, in recent years, precision medicine, which is a treatment optimized for individual patients, has been attracting attention, and Mr. Souradip Mookerjee, who studies genetic engineering at Cambridge University in the United Kingdom, said, 'Check your genes for free. How to know the health risks '.

A new era of personalized medicine: or how I got myself sequenced for free! · Souradip Mookerjee
https://souradip.mookerj.ee/blog/free-sequencing

The susceptibility and symptoms of illness are affected by the lifestyle and illnesses of the person in the past, and there are cases in which a person with some genes is liable to develop a specific illness. If you know in advance that you are susceptible to a particular illness, you can take measures such as 'because you are prone to skin cancer, apply sunscreen carefully.'

Also, many drugs target proteins in the body, but if some patients have different genes than normal people, the drugs may not work as expected. For example, codeine, which has analgesic and anti-diarrhea effects, is a drug that is broken down into morphine in the liver, but some people cannot break down codeine, so it does not have the same effect as others.

By incorporating the individual genetic data of patients into treatment and disease prevention, it is possible to provide optimal medical care considering the effects of genes. Of course, if you ask a genetic testing company like 23andMe to do a genetic analysis, you'll be charged, but Mookerjee says he's got his own sequence for free and found a way to know about his risks.

Mookerjee points out that even humans and bananas share 50% of the genes, and only a few genes are actually related to susceptibility to disease.

Of particular note is the HLA (Human Leukocyte Antigen) , a molecule that represents the blood type of cells, including white blood cells.

HLA is an antigen that is expressed in most cells of the human body, and has the role of distinguishing the cells that are originally in the body from viruses, bacteria, cancer cells, and so on. Unlike blood types, HLA, which plays a very important role in the immune system, has tens of thousands of types. When infected with a virus, it presents the virus to cytotoxic T cells , and various immunity starts from this. The cells destroy harmful cells.

The presence of tens of thousands of HLA types makes it difficult for viruses to evade all human immune systems, while some HLA types make them more susceptible to specific viruses. HLA types are also involved in autoimmune diseases and cytokine release syndrome (cytokine storms) , and it was found that people with some HLA types are more likely to develop autoimmune diseases such as ankylosing spondylitis and Behcet's disease. I am.

As an example where the difference in HLA type between individuals becomes a problem, when the HLA type of the donor and the patient who perform organ transplantation are different, the patient's body judges the transplanted organ as a foreign substance and attacks it. Can be done. Since few people have an exact match for the HLA type, immunosuppressants are used during organ transplantation to reduce the attack on the organ.

Cases where similar problems occur include

hematopoietic stem cell transplantation to treat leukemia and the like. Since the compatibility of HLA type is important in selecting a donor for hematopoietic stem cell transplantation, the bone marrow bank is examining the HLA type of the person who registered as a donor to check whether it is compatible with patients waiting for transplantation. ..

Mookerjee thought, 'If you can register with a bone marrow bank and have your HLA type tested, and you can get that data later, you will know your HLA type.' Under the EU General Data Protection Regulation (GDPR) , the right to request a copy of personal data managed by a company or organization is granted. Discovering that this right also applies to the hematopoietic stem cell registry, Mookerjee requested a copy of his data under the GDPR.

When I sent the documents to prove my identity according to the procedure, Mr. Mookerjee said that the HLA type tested by the bone marrow bank arrived, so I decided to obtain genetic information for free without going through a private genetic testing company. Succeeded. In addition to the HLA type, 'blood type', ' history of cytomegalovirus infection related to fatal risks such as immunodeficient organ transplantation and immunosuppressive therapy', and ' CCR5 resistant to human immunodeficiency virus (HIV)' Information on 'whether or not it has a mutation in' and 'type of killer cell-mediated immunoglobulin-like receptor (KIR) ' was also sent.

As a result of analyzing the obtained HLA type, Mr. Mookerjee has an HLA-C12 allelic gene that is prone to psoriasis, an autoimmune disease centered on skin symptoms, and combines HLA-B35 and HLA-C04. It was found that there is a high risk of rapidly progressing to acquired immunodeficiency syndrome (AIDS) when infected with HIV. Based on this idea, Mookerjee argued that people could get a deeper understanding of their bodies without being exposed to concerns about the use of genetic data by private companies.