Patient experience and Co-Creation in Health

Co-creating patient experience in health, pharma and wellbeing

Preventing rare diseases before conception

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February 28th is the World Rare Disease Day, a day that is without doubt necessary to pay at least once a year attention to a group of people that is far away from being reduced and which is bigger than we believe. According to the Spanish Federation of Rare Diseases, there are more than 3 million Spanish people, who are affected and who make up 7 % of the population. That means, as much as the whole population of Barcelona. In Europe there are 30 million of affected people, 6% of the population. Worldwide, it is calculated that between 6% and 8% of the population is affected by one of the approximately 7000 diseases, of which 4000 cannot be healed. Each one of us carries 14 to 18 mutations corresponding to a genetic disorder and one in every 300 births is a child with a monogenic disease. Wouldn’t it be good, if we could prevent that children inherit diseases?

rare disease hope

It is possible to prevent Rare Diseases
That is exactly what the preconception tests are doing, preventing before a woman becomes pregnant. For two or three years there exist preconception genetic tests on the US-market, one of them is Recombine, which is also distributed in Europe. Obviously, it is not able to prevent all Rare Diseases, but at least the 213 most prevalent monogenic diseases (result from modification in a single gene) and between them the 20 most frequents.

What’s a preconception test?
Up to now, a woman could only find out during her pregnancy, through a blood test, amniocentesis or corial biopsy, if her child has genetic diseases. In all this cases, if the result is positive, it is too late. The mother confronts a tremendous situation in which she has to decide if she wants to continue her pregnancy or abort the child; when the new Spanish legislation prospers the situation could become even more dramatic.ginecologo

Since the 90s there exist Preimplantation genetic diagnoses (PGD), which are applied when there are previous cases of genetic diseases or when the gynecologist detects risks for the couple. It is of course a better solution than to face the risks, but it is applied just in case of identified risk factors and, moreover, it is a very expensive solution, considering that the PGD usually costs 3000 euros, besides, it is necessary to add an assisted reproduction cycle, which is needed to generate the embryos. The preconception test analyzes the genome of the parents, before the woman becomes pregnant. The parents have to give a swab of the mucous membrane or blood. From there the DNA is extracted and a chip, which has been programed to read the mutationsrecombine kit corresponding to the diseases, reads the DNA of the parents. The test is able to detect the DNA mutations of the mother, the father or both. Just in case that both parents are homozygous of the disease there is a risk for the child. Then the parents receive a positive report which gives them the possibility to consult a medical genetics specialist about their risks.

That the couple carries grave mutations does not mean that they cannot get a healthy child. In this case the couple can undergo an assisted treatment which makes possible the selection of healthy embryos through PGD.

Why the preconception tests aren’t more popular?
The market research (see the post about the living lab for market acceptance) shows that a lot of doctors reject offering their patients a less traumatic and cheaper alternative (560 euros versus 3.000 euros of the PGD) to the tests which are realized during the pregnancy. The reasons are various; from ignorance and resistance in front of something they don’t know, about the fear of demanding a price they are judging as high in times of crisis – What’s the price for having a child with diseases like Thalassemia or Cystic fibrosis? – , to the pure economic interest for obtaining more space to prescribe amniocentesis.

The law obligates doctors to apply preconception tests
The European Directive 2006/17/CE of 8 February 2006, implementing the Directive 2004/23/CE of the European Parliament, obligates the doctors to prescribe the most effective treatments available on the markets; if they don’t do it can bring with it indemnities, how the actual jurisprudence is showing. (Sentences Draon, Maurice, Perruche among others).

Nevertheless, it shouldn’t be the legal consequences that bring gynecologists to contribute to the prevention of Rare Diseases, but because it’s their mission as a doctor.

Not all couples require a preconception  test. When the couple is young, the possibility of mutations is very low, but the statistics show that with the age the probability of developing mutations advances; from the age of 32-34 up, it is advisable to realize the test.

Listening to doctors and patientsgine 2
Contrary to most cases described in this blog, Recombine has not been developed by a co-creation process with patients and healthcare professionals. Yet, its commercialization was tested using a real clinic with real patients in real situations. This has allowed to work very closely with doctors, patients and nurses on the genetic risks that really matter to the patient, to understand the difference between waht the physician “sells” (scientific breakthrough) and what the patient is looking for (security). Thus, listenting to patient insights Recombine has developed a specific test for fertility related genes and is has definitly changed its message, orienting it to security.

Autor: Carlos Bezos Daleske

Siento curiosidad por todo lo relacionado con personas y organizaciones, especialmente en salud. Me gusta trabajar con personas y con su capacidad de innovación y co-creación. www.iexp.es I feel very curious about everything related to people and organizations, especially in healthcare. I enjoy working with people and their ability to innovate and co-create. www.iexp.es

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