Family testing for rare genetic diseases are needed

Genetic diagnosis before implantation are not reimbursed

As the number of rare genetic diseases that can be managed increases, the importance of early diagnosis through family tests is emerging.

 

According to the KDCA's "2019 Statistical Yearbook of Rare Disease Patients," the number of new rare diseases in 2019 stood at 55,499 with about one per 1,000 population.

 

The number of patients suffering from each rare disease is rare, but the total population is indescribably large.

 

Many neighbors around us are already living with rare diseases.

 

However, the development of the medical and pharmaceutical industries has enabled prediction and management of certain genetic diseases.

 

For example, Fabry disease, one of the most common resource accumulation diseases, is a genetic disease passed down from parent generation to child generation.

 

The cause of Fabry disease is that women with genetic variation have a 50% chance of passing it on to their children regardless of gender, and men are 100% inherited from their daughters and not from their sons.

 

Therefore, patients with Fabry disease may not be their fault, but sometimes live under the social stigma and negative perception of "genetic disease" as the patients.

 

Genetic possibility of Fabry disease

However, since Fabry disease is a treatable, it is most important to inform family members as soon as one of the family members is diagnosed and start treatment before the disease progresses to severe conditions.

 

This can prevent worsening symptoms and irreversible organ damage, and especially the younger generation can relieve vague anxiety about childbirth by making family plans in advance.

 

In fact, patients with Fabry disease often postpone or avoid the second-generation plan for fear that their children will inherit the disease.

 

Fabry disease is a legally designated "preconception genetic diagnosis" that allows patients with Fabry disease to conceive a healthy fetus.

 

Preimplantation diagnosis is a method of transplanting embryos that do not have the gene of the disease into the womb through pre-pregnancy genetic testing to help pregnant a child without genetic disease.

 

Fabry disease patients often hesitate or give up pregnancy itself," said Kwon Young-joo, a professor of kidney medicine at Korea University Guro Hospital.

 

Professor Kwon said, "But with institutional help, we can give birth to healthy children without worrying about heredity." If Fabry disease has been diagnosed after pregnancy, it is recommended that a newborn screening test is performed to determine whether a child is born with Fabry disease or not for proper treatment and prognosis.

 

This is because if a child is diagnosed with Fabry disease, he or she will visit the hospital periodically as he or she grows up to monitor the progress of the disease, and if necessary, the prognosis may be good if treatment begins early in childhood.

 

There is also an unmet demand.

 

Genetic diagnosis before implantation is non-reimbursed, and not yet been covered by health insurance.

 

Consequently, there may be an economic burden on the cost.

 

"Genetic diagnosis before implantation is not covered by health insurance yet," said Professor Kwon Young-joo.

 

Diagnosis is also recommended for the healthy life of children.

 

"As much effort is being made by health authorities and all walks of life to overcome the low birthrate problem, consideration and review are needed in these careful areas."