Prognostic Test -Arthrotest®

The Osteoarthritis

OSTEOARTHRITIS IS A COMPLEX GENETIC DISEASE

Osteoarthritis is a degenerative joint disease characterized by a process of cartilage deterioration, with proliferative reaction of the subchondral bone and inflammation of the synovial membrane. (1)

For years it has been accepted that it is a polygenic disease. Genetics, together with clinical factors, influence not only the appearance of osteoarthritis, but also the progression of the disease.

Epidemiological studies estimate that knee osteoarthritis is hereditary in 40% of cases and the progression of osteophytes and narrowing of the intra-articular space by 60-70%. (2) (3) (4) (5) (6)

  1. Definition of the Spanish Society of Rheumatology (SER)
  2. Panoutsopoulou K et al. Ann.Rheum.Dis. 70: 864-867
  3. Felson D, et al. NEJM 2006,354; 8: 841.
  4. Valdes A.M. et al. 2008. Rheum. Dis. Clin. North Am. 34: 581-603
  5. Valdes A.M. et al. 2010. Best. Pract Res. Clin. Rheumatol. 24: 3-14
  6. 6. Spector and McGregor, Osteoarthritis Cartilage. 2004

GENETICS: KEY TO THE PROGRESSION OF OSTEOARTHRITIS

Osteoarthritis is a pathology with an important genetic component that influences both its development and its progression. The influence of the genetic factors characteristic of each patient can affect the articular cartilage, making it more or less prone to degeneration. The existence of polymorphisms in different genes may influence the predisposition and / or severity of osteoarthritis.

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Arthrotest

PERSONALIZED MEDICINE

The knowledge of the human DNA has supposed a radical change in the diagnosis and the prognosis of diseases of genetic base.

In this field, knowledge has made it possible to accelerate the identification of genetic variants (genetic polymorphisms) associated with the risk of suffering from certain diseases and / or suffering a more or less rapid progression of the disease, facilitating an early diagnosis and prognosis of the disease in each patient.

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What is Arhrotest

Arthrotest® is a clinically validated tool based on SNPs genotyping , which allows knowing the genetic predisposition of each patient to undergo a rapid progression of primary knee osteoarthritis.

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How does it work?

It is performed only once in a life with a simple saliva sample

Arthrotest® performs a rapid and specific screening of the most important genetic polymorphisms associated with the progression of knee osteoarthritis.in a single analysis an efficient.

Based on the results of the genetic test and combining them with the information of clinical variables of the patient, a detailed report is made in which each patient is classified in a risk group and specific therapeutic recommendations are given.

Arthrotest® has high specificity and sensitivity (excellent accuracy level)

What benefits does it add?
  • Predicts the evolution of osteoarthritis of the knee.
  • Allows to take preventive measures.
  • Help the doctor to personalize treatment in the most appropriate way.
  • The above benefits can help improve patient’squality of life.
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FAQS

FREQUENTLY ASKED QUESTIONS

What is personalized medicine based on?

Personalized medicine is based on the knowledge of the human genome and the use of new molecular diagnostic techniques for the development of technological tools that allow to personalize and optimize the treatment of each patient to different diseases.

What is the relationship between genetics and osteoarthritis?

Osteoarthritis is a pathology with an important genetic component that influences both its development and its progression. Epidemiological studies estimate that the progression of knee osteoarthritis is inheritable in 60-70% of cases. The influence of the genetic factors characteristic of each patient can affect the articular cartilage, making it more or less prone to degeneration.

What is Arthrotest® for?

To know the genetic predisposition of an osteoarthritic patient to suffer primary knee osteoarthritis of rapid evolution. Primary osteoarthritis is an arthrosis of unknown cause that is probably due to certain genetic conditions that lead some people to develop degenerative changes in the articular cartilage.

What is Arthrotest®?

Arthrotest® is a clinically validated genetic test in saliva based on the analysis of specific genetic markers (SNPs – “Single Nucleotide Polymorphisms”) that allows knowing the genetic predisposition of each patient to undergo a rapid progression of primary knee osteoarthritis.

What type of information does Arthrotest® provide?

Arthrotest® performs in a single analysis an efficient, rapid and specific screening of the most important genetic markers associated with the progression of knee osteoarthritis. Arthrotest® classifies the patient in a group of genetic risk to develop knee osteoarthritis of rapid evolution (low or high risk), this information will allow your doctor to recommend a personalized treatment.

Why the progression of the disease is different in each patient?

Certainly, the prognosis of osteoarthritis is very variable depending on each patient. Starting from the same degree of osteoarthritis, there are patients who progress in a few years to an advanced stage of the disease (which may end in need of prosthesis), while others remain in the initial stage for years. At present, some clinical variables are known that influence the prognosis or evolution of the disease but are imprecise. Now it has been seen that there are numerous genes linked to an higher or lower risk of suffering from osteoarthritis and even a better or worse prognosis of it.

If my father, mother or any of my siblings have a knee prosthesis, what possibilities do I have of needing it?

Genetics, along with other risk factors, plays a very important role in the development of knee osteoarthritis. Therefore, if your family members have suffered from severe knee osteoarthritis, you have the possibility of presenting a high genetic risk that, together with other risk factors (obesity, female gender, age, risky professions, etc.), may lead to develop a rapid evolution of his disease that ends in a prosthesis implantation.

If I have a high genetic predisposition to develop rapidly evolving knee osteoarthritis, would my family members also have it?

Genetics, along with other risk factors, plays a very important role in the development of knee osteoarthritis. Therefore, if you have a high genetic predisposition for rapidly evolving knee osteoarthritis, your family members may also have it. By knowing the risk of the progression of their disease, you can act with different tools to benefit the health of your family members and modify the development of it.

Can I do the test if I suffer from osteoarthritis of the knee and hand or other joint at the same time?

Yes. But keep in mind that the test will only inform you about the risk of rapid progression of your osteoarthritis of the knee.

What result will I get if I take the test having both knees affected?

It is a genetic test. The genetic information of a person is unique and the same for all cells in your body. Therefore, if you have primary osteoarthritis in both knees, the risk you get after taking the test will be applicable to both joints.

Can I have the test if I have secondary osteoarthritis of the knee (osteoarthritis as a result of a previous injury or abnormality of the joint)?

Yes. However, you should bear in mind that the result of the test may not be in line with the actual progression of your disease since in your case other additional risk factors (trauma, injuries, menisectomies, etc.) are influencing the evolution of his osteoarthritis.

Can I run the test if apart from osteoarthritis of the knee I suffer from rheumatoid arthritis?

Yes. But you should bear in mind that the result of the test may not fit the actual progression of your disease since the presence of rheumatoid arthritis in a patient with osteoarthritis of the knee represents an additional risk factor.

Is it possible to perform the test without having a definite diagnosis of osteoarthritis of the knee?

It is not recommended. The result of the test may not be reliable in this case since Arthrotest® has been developed based on genetic markers associated with a rapid evolution of knee arthrosis identified in a population already diagnosed with the disease, which cannot be assured a reliable association of genetic markers if you do not have the disease. However, your doctor can do a quick review and diagnosis of knee osteoarthritis in one visit.

Can I run the test if I have joint discomfort in my knee?

Yes. But keep in mind that your doctor must confirm the diagnosis of osteoarthritis of the knee before you can be tested. Your doctor can make the diagnosis quickly and easily in the consultation.

What benefits are obtained from Arthrotest®?

Redicting the progression of the pathology (fast or slow) once the disease is detected so that your doctor can recommend a specific and personalized treatment and carry out an effective monitoring and management of osteoarthritis. In this way, you can adopt preventive measures that can help improve your quality of life.

How reliable is Arthrotest®?

Arthrotest® is based on a prediction model that has a very good accuracy, so its ability to discriminate patients with rapidly evolving osteoarthritis of the knee is excellent (Hosmer DW, Lemeshow S. Applied Logistic Regression, 2nd ed. (2000)).

Who can do this genetic analysis?

Anyone diagnosed with primary osteoarthritis of the knee.

Is there any consideration to take into account before taking the Arthrotest® genetic test?

It is important to bear in mind the following considerations: the person performing the test should not eat, smoke, or chew gum for half an hour prior to the test.

Is the information obtained in the results report confidential?

All the data that you will provide us will be confidential. To ensure that no one knows your identity, both the saliva sample and your associated health information will be identified with a code. Therefore, your identity will not be revealed to any person except legal requirement. In addition, these data will no contain information that can identify you directly, such as name and surnames, initials, address, social security number, etc.

What is the scientific support behind Arthrotest®?

Arthtrotest® has been developed from a clinical study in 281 Caucasian patients diagnosed with primary knee arthrosis and clinically validated in a second independent population of patients.

Am I going to suffer any risk or side effect when I get tested?

As it is a saliva sample, it will not pose any risk and the inconvenience is minimal.

Can the test be done in blood?

Yes. The test is based on the analysis of specific genetic markers found in your DNA or genetic material. This material can also be obtained from a blood sample.

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