The scoop on genetic diagnosis and genetic counseling

The scoop on genetic diagnosis and genetic counseling

This piece highlights the work of the Jerome Lejeune Institute in France, which was founded to carry on the work of Dr. Lejeune and has consulted with patients for over 20 years. We are working to bring this expertise to the United States. We know that life-long support is the best way to care for those with Down syndrome, and we’re eager to get started. Stay tuned for developments on our medical center outside of Washington D.C.

What accounts for the 20 percent of non-Down-syndrome-related consultations at the Jerome Lejeune Institute? What are these 250 syndromes other than Down syndrome for which people of all ages come to Jerome Lejeune Institute in France for diagnosis or medical care? By whom and how are these syndromes diagnosed?

The answers to these questions get to the heart of the profession of geneticists practiced by Jerome Lejeune and those associated with the Jerome Lejeune Foundation and the Jerome Lejeune Institute.

Although the Jerome Lejeune Institute is known for Down syndrome, which represents 80 percent of the 9000 patients we treat, the Institute also treats other rare intellectual disabilities of genetic origin. We provide both diagnoses and ongoing therapy for patients with these conditions.

In this way, we continue the work of Jerome Lejeune who researched and treated almost all syndromes known at the time, from Down syndrome to Cri du Chat and Fragile X Syndromes.

As progress is made in the field of genetics, we are able to better know and diagnose intellectual disabilities of genetic origins. Almost every week, we discover new cases of genetic abnormalities, that are associated with an intellectual disability!

The Institute incorporates new research discoveries carefully and deliberately in order to best improve patients’ lives.

Doctors Clotilde Mircher and Isabelle Marey, geneticists at the Institute, underline the three principles that guide them.

First, naming the disease and knowing the cause are vital for the patient and his or her family. Even if there is no treatment, the patient can benefit from the knowledge acquired from other patients with the same disease, especially if it is rare.

Next, genetic counseling helps the family understand the possible recurrence in future generations.

Finally, genetic diagnosis can lead to knowledge of the physiopathological mechanisms, i.e., the way in which a genetic anomaly can affect intellectual development and cause other health problems such as epilepsy and sleep disorders. Once the patient is diagnosed, we can find specific treatments and implement appropriate care.

This is what differentiates a concrete diagnosis from a hunch: the confirmation of the diagnosis is accompanied by a treatment plan.

Receiving a genetic diagnosis can be a long and difficult process for many reasons.

First, there is the difficulty of making a diagnosis of intellectual disability. This is done over time as the child develops and gains skills. If necessary, we use adapted tools and enlist the help of other medical specialists such as neuropsychologists and pediatric neurologists.

Additionally, patients are assigned a geneticist, who organizes genetic sampling and reports results. The Institute, which has established partnerships with high-throughput genome sequencing platforms such as Necker Hospital in Paris, is able to expedite this process without additional cost for families.

However, genetic diagnosis is not guaranteed, because even with these advanced techniques, all the genes are not known and the technology is still imperfect. Concrete diagnosis occurs in 50% of the cases. Additionally, these advanced techniques bring a lot of genetic information whose interpretation is sometimes challenging. Many genetic variations thus have no pathological consequences.

Each stage has its importance and requires expertise, from gauging the parents’ anxiety, to diagnosis and care.

In this complex scientific context, the Jerome Lejeune Institute wants to ease the genetic journey of families by starting the diagnostic process early and conducting the necessary care.

At Jerome Lejeune Institute, thanks to the multidisciplinary nature of consultations, every genetic diagnosis, no matter how rare it is, enables specialized medical monitoring throughout the patient’s life with the sole aim of improving his / her abilities.

According to the adage repeated by Professor Réthoré: “Genetics have no heart, that is why geneticists must have one”.

Source: Article based off of a translation of “Diagnostic génétique, conseil génétique, en quoi consistent-ils?” in La lettre de l’Institut n°13.

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