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Patients and families with rare genetic disorders, and people who have not developed a rare genetic disorder but carry a gene mutation, often give up trying to have a child. That’s because they think they will not be able to give birth to a healthy child.
However, not all patients, families, and carriers of genetic mutations have the means to give birth to a healthy child. Through prenatal counseling and preimplantation genetic testing, they can give birth to healthy children, an expert said.
Professor Kim Soo-yeon of the Department of Clinical Genomics at Seoul National University Hospital encouraged patients and families with inherited rare diseases not to give up having children during a Wednesday symposium at Seoul National University Children's Hospital. (KBR photo)
Professor Kim Soo-yeon of the Department of Clinical Genomics at Seoul National University Hospital encouraged patients and families with inherited rare diseases not to give up having children during a Wednesday symposium at Seoul National University Children's Hospital. (KBR photo)
Professor Kim Soo-yeon of the Department of Clinical Genomics at Seoul National University Hospital explained that patients with rare diseases are given various types of counseling these days, of which prenatal counseling is crucial. Prenatal counseling aims to give birth to the next generation of healthy children.
Professor Kim said so on Wednesday at the 2nd On-Dream Rare Disease Joint Symposium on “Moving Rare Diseases One Step Forward for the Future Generation” held at Seoul National University Children's Hospital,
Prenatal counseling starts with a rare disease diagnosis. While there are some rare diseases for which the cause, course, and prognosis of the patient's disease are known, there are some rare diseases for which the name of the disease is still unknown.
“For undiagnosed rare diseases, it is impossible to target preimplantation genetic testing for prevention,” Professor Kim said. “So, it is recommended to combine prenatal counseling with efforts for final diagnosis.”
Specific prenatal counseling and planning are done when a rare disease is diagnosed.
“Once diagnosed, the exact type of disease depends on how aggressive the prenatal counseling and planning will be,” Kim said. “Depending on the age of first onset and how severe the symptoms are, preimplantation genetic diagnosis can be used to plan a pregnancy. If the onset is late and the patient is still able to live with current treatments, a normal pregnancy and childbirth can be planned, and the appropriate medical procedures can be determined.”
For patients with rare diseases, there are additional factors to consider when making prenatal plans, such as how to give birth based on the nature of the disease and assessing the risk of recurrence or worsening of the disease due to pregnancy and childbirth.
“The actual pregnancy (which is based on in vitro fertilization after preimplantation genetic diagnosis) can be much more difficult than a normal pregnancy, so the prenatal plan depends on whether you can handle it and the risk of disease recurrence,” Professor Kim explained.
Family genetic testing is also important when planning a second child for couples with a first child with a rare disease. In many hereditary rare diseases, it is not uncommon for only one child to have a rare disease due to a mutation.
If a family genetic test shows that neither of the couples has a rare disease-related gene mutation and that the rare disease started in the child, the complex process of preimplantation genetic diagnosis is not recommended because the first child's condition is not a major factor when planning a second child.
Besides, preimplantation genetic testing is not currently available for all rare diseases due to legal and ethical issues, which is another reason why it is important for patients to know their rare diseases. According to the Ministry of Health and Welfare, as of December, only 218 genetic diseases can be genetically tested on embryos and fetuses, so patients with other rare diseases cannot be treated by selecting only normal embryos through preimplantation genetic testing and placing them in the mother through IVF.
“You have to check the institutional part, but the diseases that can be genetically tested in embryos or fetuses are currently listed,” Professor Kim said. “Preimplantation genetic testing is not available for all rare diseases, so there may be legal and ethical issues in prenatal planning.”
The good news is that each rare disease patient can apply to the Ministry of Health and Welfare individually to have their embryo or fetus designated for genetic testing through an advisory committee. In September, after reviewing them at an occasional advisory meeting, the ministry revised the notification to designate and expand the genetic diseases that can be genetically tested for embryos and fetuses. It changed the designation to a permanent advisory committee and regular deliberations.
“If a genetic disease that can be genetically tested for embryos and fetuses is not included in the notification but is deemed necessary, it is systematically evaluated and updated several times a year through complaints to the Health and Welfare Ministry,” Kim said. “So, it is possible to create an environment where preimplantation genetic testing can be performed. Prenatal counseling is to help the process of giving birth to a healthy child through preimplantation genetic diagnosis or prenatal testing.”
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Kim Kyoung-Won kkw97@docdocdoc.co.kr
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