We need only the genetic report obtained from the company which has performed your DNA test.

Alternatively, you can email us only information about the genes and mutations which have been identified.

Yes, it will not be distributed or disclosed to a third party without prior authorization. However, with your explicit permission, this data can be used for purely scientific purposes.

Our analysis is an individual deep scientific study. To the best of our knowledge, there is no other such option on the market. A Pharmacogenomics - Precision project will be created for you, and a corresponding scientific investigation will be performed.
You will receive a detailed report that will be sent to your physician.
You will also receive a copy of this report, and we will also provide a helpful discussion about available treatment options. In particular, you will receive a detailed statement about:

- how your mutation/s alters the corresponding protein structure and its functions;
- whether it is a disease-causing mutation or not; thus you will also know what actually causes your disease;
- whether existing drugs, if there are any, can influence your particular protein mutation. In fact, this is the main principle of Pharmacogenomics - Precision Medicine as not each drug produces the same response in different individuals;
- any possible (including experimental) treatment and even natural products that might help, which you MUST discuss with your physicians in case no approved drugs exist.

Many diseases can be provoked in a completely different way. For instance, the causes of hypertrophic cardiomyopathy (HCM) (or another cardiomyopathy) can be dissimilar. The disease can be provoked by a mutation in some of the proteins that control the movement of your heart muscle, but also via many other pathways, i.e. proteins (calcium deficiency in cells, etc.). Obviously, in the case above the drug target will be completely different too.

Another example is melanoma. In some of the cases the patients have a mutation in a protein called B-raf, but others do not harbor such a mutation. In the last example, the FDA approved treatment is different. However, in both the HCM and the melanoma examples above a number of different mutations can be the disease cause and the drug response is often not known a priory.

In fact, unfortunately, there are still no drugs for HCM, but the ones that will hopefully be developed will surely target exactly different proteins, depending on where the mutation has been detected in a certain patient.

Nowadays, the situation is similar in cases of numerous other diseases; therefore, Pharmacogenomics - Precision Medicine is not an exotic treatment but a necessary option.

In many cases each mutation has a dissimilar effect, i.e. it alters the protein function in a different way, and, consequently, this might lead to a diverse drug response. Hence, the information we will provide you with can help your physician make the best decision for your treatment.

We create an individual project for each client. Depending on the complexity of your case, it will take between 2 and 8 weeks. Once again, our analysis is in fact an individual scientific study.

New! A pioneering study focused on the prevention of hypertrophic cardiomyopathy (HCM) among individuals with a sarcomere gene mutation (Feb. 2015)

A pioneering clinical study, published in the Journal of American College of Cardiology, once again raises the question: Why Should Cardiologists Consider Genetic Testing for Hypertrophic Cardiomyopathy?

Many thought that medicine in the “post-genome era” would quickly develop into highly Pharmacogenomics - Precision care, with targeted therapies based on individual mutations. But. as we all know, changes in medical practice typically take a long time.
The ultimate success relies not only on improved diagnosis but also on treatments for genetically predisposed people in order to prevent a disease. Toward this goal, in a recent issue of JACC: Heart Failure, Ho et al. report the results of a pioneering study that was focused on the prevention of hypertrophic cardiomyopathy (HCM) among individuals with a sarcomere gene mutation. During a median follow-up of 25 months, diltiazem treatment was associated with an improvement in certain subdiagnostic manifestations, such as a change in LV wall thickness and a left ventricular end-diastolic diameter (LVEDD). Somewhat surprisingly, blood pressures were not significantly affected. The study included a commendable range of 25 different mutations among the top 3 genes in which mutations cause HCM: MYH7, MYBPC3, and TNNT2. Intriguingly, the results for the subgroup with MYBPC3 mutations were much more remarkable. This is a direct evidence that genetic tests and our understanding of the HCM disease at molecular level are necessary for successful drug treatment.
With the increased clinical use of genotyping for cardiomyopathy, the discovery of a therapy to prevent HCM would be welcomed by many health care providers and families who have watched this condition develop throughout multiple generations. As our understanding of the pathogenesis of HCM and other forms of cardiomyopathy continues to improve, it is easy to envision a time in the near future when these conditions will be readily prevented or halted in their early stages.

Refers to “Diltiazem Treatment for Pre-Clinical Hypertrophic Cardiomyopathy Sarcomere Mutation Carriers: A Pilot Randomized Trial to Modify Disease Expression”

Our approach suggests a link between the so called “Pharmacogenomics - Precision genetics” and “Pharmacogenomics - Precision Medicine”. There is a gap between these fields. For instance, in the example above, with the BRCA1 test you and your physician can only obtain information whether you are under risk of getting cancer, but this is insufficient to definitively determine what kind of treatment would be the best in your particular case. For the latter you need much more specific knowledge about how exactly your mutation disrupts the corresponding protein/s and protein-protein interactions and pathways, and, more importantly, whether there is a drug which might actually help you. Our novel approach is focused, on many levels, on giving you this decisive information. To put it in simple words, most genetics tests can help detect a health problem, but DO NOT provide information how the patient can manage it! Our service will let you have at least a vision about this.

An example is the BRCA1 pathway targeting the drug BMN673, which is under clinical trial. It has been shown recently that tumor shrinkage by at least 30% was seen in 11 out of 25 patients with ovarian cancer. However, other pathways must obviously be targeted for the remaining patients, due to the differences in the mutations in the patients under study. Moreover, it is not possible for any effective drugs to be developed without such crucial information, i.e. what is the exact process that should be stopped.
Without going into too much detail, I would just mention that there has been significant progress regarding both how to manage patients with a specific BRCA1 mutation and what drugs are currently under development. These findings have been published in the Cancer Research journal and other media, as follows:
http://cancerres.aacrjournals.org/content/early/2014/09/12/0008-5472.CAN-14-1716
http://www.medicaldaily.com/first-brca-targeted-drug-shows-early-promise-biomarin-jumping-phase-iii-trials-246438
http://www.eurekaselect.com/119427/article

Another example concerns the most prevalent inherited heart disease known by the common name of Cardiomyopathy. In fact, behind this common name there are thousands of different mutations in various genes (i.e. proteins), and it seems that it is more correct to say that you have, for example, a MYH7 gene (Myosin protein) disease which is manifested as Cardiomyopathy, rather than just Cardiomyopathy. It is pretty much the same as breaking a foot – you can do it in thousands of ways :). 20 years after it was shown that Cardiomyopathy was a genetic disease, there is still no cure. This is due to the lack of knowledge about how exactly these mutations alter the proteins functions; thus, it has not been possible for any drug to be developed yet. In 2013 there was a significant progress in this field, which could open the door for drug treatment. In fact, this is one of our main goals and one of the reasons we search for funding – to discover a set of small molecules which can modulate these specific protein functions and to suggest effective treatment for Cardiomyopathy.

Let’s get back to your particular case and your question. There are a lot of companies which can provide you – for about $3000-5000 – with a genetic screen of the known genes that cause Cardiomyopathy, but they do not provide you with sufficient information about how, and even whether!, your mutation/s alter the corresponding proteins and is/are disease-causing. The same problem exists for almost all the other diseases, e.g., BRAF gene mutations in Melanoma and other cancers.

During their scientific carriers, our scientific team members have received a lot of requests from mothers seeking help. Therefore, we offer a deep analysis/research by methods which have been revolutionized for “Pharmacogenomics - Precision genetics” and can answer the questions above, providing you and your physicians with valuable information about:

- Whether a mutation is disease-causing;
- How it alters the corresponding proteins and protein-protein interactions and pathways;
- And, most importantly, whether the different available drugs will influence your specific mutation.

Thus we make a link between “Pharmacogenomics - Precision genetics” and “Pharmacogenomics - Precision Medicine”, which seems to be referred to more accurately as “Pharmacogenomics - Precision treatment”. In many cases a number of drugs are available for certain diseases and, based on our findings, the best one can be chosen by your physicians. Moreover, our partners and we use this information for in house drug discovery in cases when no drug is still available, thus also covering one of the main subjects of “Pharmacogenomics - Precision treatment”. Indeed, this is not a trivial task, and it will additionally push Pharmacogenomics - Precision Medicine development. Even if a drug is still not developed or is under clinical examination, you will always need such information for your Pharmacogenomics - Precision treatment, and your physicians can follow the latest achievements in your particular case based on the results provided by our or some other teams.

There is really a revolution in this field nowadays, and most of the drugs against a number of genetic diseases will most likely be developed within the next decade.

Each case is different and it is difficult to set a price a priory. It depends on the time required for the study to be performed and the scientists involved in the process. Therefore, the price will be set upon mutual agreement.

Don't worry; we are scientists first, rather than businessmen.