JEDDAH: Many diseases have a genetic component. Thanks to scientific and technological advances, however, and better understanding of human genes, genetic testing can help people to better understand their bodies and take precautions to protect themselves and their families.

A genetic disorder is caused in whole or part by a change or mutation that alters a person’s DNA from a normal sequence. In some cases this is inherited by a child from its parents, in others it happens during a person’s life randomly or as a result of environmental factors, for example exposure to cigarette smoke.

There are a wide range of genetic disorders. Down Syndrome, for example, is reported to affect 1.8 out of every 1,000 live births in Saudi Arabia. Sickle cell disease is more common in some parts of the country than others, with between 91 and 99 cases for every 10,000 live births in the Eastern Province.

Sickle cell disease covers a group of inherited red blood cell disorders. In sickle cell anemia, for example, there are not enough healthy red blood cells to carry oxygen throughout the body. There is no cure but treatments are available to reduce pain and prevent complications. 

In 2005, Saudi authorities sought to address the issue of genetic disorders by introducing a mandatory premarital screening program with the aim of identifying common genetic blood disorders such as sickle cell anemia and thalassemia, along with infectious diseases such as hepatitis and AIDS.

According to the Health Ministry, this knowledge helps couples to plan a healthy family. It also slows the spread of such disorders and diseases, thus reducing the pressure on the healthcare system and blood banks, and the financial burdens on families and society of providing care.

Fawz Al-Harthi, a genetic counselor, told Arab News that the incidence of consanguineous marriage, or marriages involving blood relatives, is relatively high in Saudi Arabia. This can increase the risk of genetic disorders.

“Many genetic diseases have been found, suggesting that couples may have deleterious, lethal genes inherited from a common ancestor,”she said. “When transmitted to their offspring, they can lead to prenatal, neonatal, child morbidity or mortality.”

After noticing a lack of availability of genetic counseling services, in 2019 Al-Harthi launched yourgeneticcounsel.com, an Arabic-language website that provides information about genetic disorders. For those who are identified as being at risk of passing on disorders to their children, counselors can offer support and advice to help them make personal decisions about their health and future pregnancies.

“I used to work in a public hospital and I discovered that there was a shortage of genetic counselors and a lot of patients had to come from remote areas just to get a consultation,”  Al-Harthi said. “I thought to myself, maybe there is an easier way to do this.

“The main goal of the website is to provide access to and communication with genetic counselors who are accredited by the Commission for Health Specialties, and to request consultations.

“The counselors collect family health history and provide disease-risk assessment, provide psychosocial support and counseling to promote informed choices and adaptation to risks or conditions. The counselors will help the relatives of an affected patient get the right genetic testing and will provide them with a genetic counseling session when the results are ready.”

Since its launch, Al-Harthi said, counselors have provided more than 800 consultations, which have had a positive effect on those people’s lives.

Stressing the importance of the services provided through the website, Al-Harthi said: “When you go to the hospital, the role of the geneticist physician ends with diagnosing the genetic disease. It’s the duty of the genetic counselor to educate the parents and family members about the diagnosis, inheritance, genetic testing, management and prevention options.”

She added that it is imperative to seek out genetic counseling before and after the premarital screening, but that ignorance prevents many people from seeking help.

“There are still some people who believe in evil eye,  for example,  she said. “If there is a family that has seven children and one of them has a disability, they will blame it on the evil eye.”

Thirty-six-year-old Mohammed Babkair from Jeddah told Arab News that advances in genetics research could help many families.

“My sister is married to my cousin, who is related to us from both sides of the family,”  he said. “They had two boys and both had brain atrophy. The first died when he was 23 years old and the other one died when he was 18. Both were natural deaths but because of their condition. They never had children after that.”

Al-Anoud Al-Bukhari from Jeddah said that her uncle married his cousin and they had six children, three of whom had problems with their feet.

“When I was a kid, I always wondered why my cousins always wore specific shoes,”  she said. “Then my mother told me it is because they have flat feet.”

Al-Harthi said that while some pregnancy risks are simply out of an individual’s control, there are options available that can reduce the chances of children being born with disabilities. They include prenatal tests such as chorionic villus sampling or amniocentesis, which are carried out during pregnancy to detect specific abnormalities in the fetus.

In the former, a sample of cells is taken from the placenta and tested for genetic defects. If a congenital disease is discovered, the mother has the option of having an abortion up until 120 days, under specific conditions.

In an amniocentesis, a sample of amniotic fluid is taken for testing. Another option is preimplantation genetic testing, which involves the genetic profiling of embryos before they are implanted.

Concern about the possibility of passing on a genetic disorder to a child is not the only reason people should consider visiting a genetic counselor. October was breast cancer awareness month, and women with a family history of this form of the disease can visit a genetic counselor to learn more about it and the risks.

“If you have a family history of breast cancer, you have a higher risk of getting breast cancer yourself,”  said Al-Harthi. “However, most women with a family history of breast cancer do not have an inherited gene change that greatly affects their risk. Still, an inherited gene change is more likely in women with a strong family history of breast cancer, especially if the family history also includes certain other cancers, such as ovarian, pancreatic, or prostate cancer.”