Nowadays, pre-marital genetic counseling has become a very necessary and essential step. Genetic counseling and, if necessary, genetic testing can prevent the occurrence of many congenital and genetic diseases, and reduce the possibility of giving birth to infants with congenital defects (mental and physical disabilities).

Genetic tests have different types, each with a different cost; however, these costs are insignificant compared to the expenses of caring for a disabled child. This article takes a look at statistics and numbers of familial marriages around the world and the role of genetic counseling in reducing these rates.

In order to determine whether an individual or family needs to undergo genetic testing or not, it is necessary for them to first receive counseling. Genetic counseling must be conducted by a specialized genetic doctor or a trained and licensed medical professional. It is important to note that counseling before and after genetic testing is necessary. Counseling is generally separate and independent from laboratory testing.

Unfortunately, familial marriage is very common in our country and due to various social and economic reasons, the inclination to do so has not decreased; an event that is considered one of the important factors in the increase of genetic diseases. On the other hand, the knowledge and awareness of individuals in society about genetic diseases is not high; to the extent that sometimes it is observed that a family with two or three children affected by a genetic disorder still does not know that it is possible to prevent the birth of these patients.

The number of genetic tests covered by basic insurance is also limited; while some of these tests have high costs. Supplementary insurance coverage in this regard is relatively extensive.

As mentioned before, with a forward-looking perspective, it can always be concluded that prevention is much simpler, less expensive, and more effective than treatment. Especially in the case of genetic diseases, which often have no cure if they occur.

A group of genetic diseases known as autosomal diseases are prevalent, and the likelihood of their occurrence increases significantly in cases of familial marriage. These diseases are more common in the Iranian society due to the preference for familial marriage compared to Western countries. Currently, prevention of these diseases is not possible. However, with highly advanced laboratory methods, it has become possible to examine and prevent a considerable number of the most common of these diseases.

All the points you need to know about genetic testing.

Sometimes it is necessary to perform genetic testing before marriage. Genetic tests are usually done on blood samples and sometimes on other body fluids or tissues.

Nowadays, with the use of modern laboratory technologies, it is possible to determine whether you, your spouse, or your children have certain inherited disorders or not. With the help of genetic testing, doctors can identify the presence of these defective genes and, if desired by the family, prevent the occurrence of the desired disease during pregnancy.

Appropriate time for genetic counseling.

The most appropriate time to receive genetic counseling is before marriage, but it can also be done during pregnancy and even during pregnancy if necessary. This counseling and, if necessary, genetic testing can prevent genetic problems in newborns or at least expedite the treatment process and lead to more successful outcomes.

For example, in the case of infants with metabolic disorders, if diagnosed early and started on the desired diet, the complications will significantly decrease.

Family marriage.

Family marriage is one of the most important causes of genetic diseases. The best and safest type of marriage is marriage with a non-blood relative (stranger). However, in the case of family marriage, genetic counseling and carrier screening are strongly recommended in high-risk marriages.

Changing a false belief.

Many people believe that there are a lot of familial marriages among our relatives and all the children born from these marriages are healthy; however, this belief is completely wrong. In every pregnancy, there is a possibility that recessive genes come together and cause diseases. Generally, all humans have 7 to 8 defective genes and in marriages between strangers, the chance of these defective genes coming together is about 2 to 3 percent. This number is much higher in familial marriages due to the shared ancestors of the couple compared to marriages with non-relatives, also known as strangers.

The closer the marriage is within the family, the higher the risk of congenital diseases for the fetus and newborn. Marriages between cousins, uncle-niece, aunt-nephew, and step-cousins will increase this risk by three to four times. If the parents of the couple are also related, this risk will be significantly higher.

Genetic counseling is a process in which a doctor obtains necessary information from an individual or their family, draws a family tree, and calculates the risk for overall genetic diseases based on it. It is possible that during this process, a specific test may also be requested.

The duties of a doctor towards the individual undergoing consultation.

Just as the unique characteristic of a genetic disease is its tendency to recur within families, the individual aspect of genetic counseling focuses not only on the primary patient, but also on the family members of the patient, both currently and in the future. Genetic counseling, which is a central activity in medical genetics, not only informs the patient and their family, but also provides psychological counseling to help individuals adapt and cope with the effects of the disorder within the family.

The established standards of medical care require that genetic service providers obtain a current family and racial history and provide necessary recommendations regarding genetic risks for patients and their family members. Genetic testing or prenatal diagnosis may be suggested if necessary, and various treatments or management strategies to reduce disease risk should be discussed. Genetic counseling is not limited to providing information and calculating disease risk, but is a type of communication process. The ability to identify and address complex psychosocial issues related to a genetic disorder in a family plays a central role in this work. Attention to these issues is likely most effective through periodic contact with the family over time and by connecting medical or social issues with the lives of affected individuals.

Salman Khodadadi, a member of the Social Commission of Parliament, referring to the fact that genetic testing has been emphasized and approved in the 1396 budget law, says: “Currently, about 30,000 disabled people are born annually in the country. Unfortunately, due to the lack of mandatory genetic testing during marriage, individuals did not have the necessary steps to go through the testing.”

He adds: “The government has made genetic testing mandatory in order to prevent the birth of children with disabilities. This means that for all marriages, genetic testing must be done if there is a diagnosis. However, the government must provide the necessary funds to the Welfare Organization. Fortunately, the Welfare Organization has somewhat followed up on this decision, but there may be problems in allocating the budget.”

Khodadadi concludes by emphasizing that “the use of consultants is currently not legal,” stating: “If the Welfare Organization announces this issue to the parliament, efforts will be made to provide conditions for the implementation of the law.”

A legend in Pakistan tells that the people with mouse-like faces in the region between Lahore and Islamabad are beloved by God. These individuals, who have been born with very small heads since ancient times, were expected to serve God throughout their lives. As a result, in the distant past, their parents would leave them in that area and not even look back, but in this modern era, the legend alone is not enough. People have become curious to know the reason behind everything.

At first, it was believed that these people were victims of crime and violence. This is why they were bought and sold and used for begging. Their appearance was so pitiful that passersby felt compassion and gave them money. But with the advancement of science, it became clear that there is a simple answer to this phenomenon: “genetics”.

These individuals suffer from a disease called “microcephaly”. In these patients, the brain does not grow enough and it is a congenital genetic disorder that is highly prevalent among Pakistanis. However, researchers at the Human Genome Research Institute have recently found through a study that even in Pakistanis living in England who have never been to their country, a high percentage of infants are born with microcephaly, indicating the presence of the defective microcephaly gene in them.

But what is the reason for the high prevalence of this disease in this race? Research on Pakistani families shows that due to their family structure and traditional culture, they tend to have consanguineous marriages, and usually men marry their cousins, aunts, or uncles. Microcephaly is a recessive autosomal disorder that some people are carriers of, but do not show symptoms of the disease.

Autosomal disorders are dominant.

Human genes are located in a complex structure called chromosomes. All human cells have 23 pairs of chromosomes, with 22 pairs known as “autosomes” and the last pair, which determines gender, called sex chromosomes. An autosomal genetic disorder is transmitted through autosomal (non-sex) chromosomes.

Being affected means that if someone inherits only one defective gene, they will only be a carrier and will not show any symptoms of the disease. Autosomal recessive diseases only occur when a newborn inherits one defective gene from the father and another from the mother, so consanguineous marriages in families with carriers of the defective gene can lead to the spread of the disease. In autosomal recessive disorders, if both parents carry one copy of the disorder (are carriers), there is a 25% chance that the child will be born with the disease, a 50% chance that the child will be healthy but a carrier, and a 25% chance that the child will be completely healthy.

This is an important point to note that the likelihood of a genetic disorder in each pregnancy remains the same. For example, if a couple has a child with a genetic disease, the chance of having another child with the same disorder is still 25%. This means that having one child with a genetic disorder does not decrease the chances of other children being affected, and having a healthy child does not guarantee the health of future children. Unfortunately, these disorders are not limited to microcephaly. Hydrocephaly (enlarged head), cleft lip and palate, blindness and deafness, cleft lip, schizophrenia, thalassemia, and developmental delay are also genetic disorders that have a high incidence in familial marriages.

Research on the Study of Arab Genes Center.

Recently, a research study was conducted in Dubai by the Center for Genetic Studies, which showed that Arabs have the highest rates of genetic disorders, with the main cause being consanguineous marriages. The institute stated that approximately 63% of genetic problems in Arabs are due to consanguineous marriages and warned that the number of these marriages is increasing. Such marriages are very popular and common in the region, but they are not considered to be correct. In the UAE, which is the fifth country in the world in terms of the number of consanguineous marriages, about 250 types of genetic diseases have been identified, which is significantly higher compared to other countries in the world. This has become a concerning issue as it puts a heavy financial burden on the government, and therefore, special attention must be paid to genetics. These studies have also been conducted in Bahrain and Oman and are planned to be pursued in all Arab countries.

Family Marriage and Problems.

In the past, it was recommended to marry within one’s own relatives, but this saying may not have many supporters in today’s world. However, in some countries, family marriages are still common in order to preserve traditions. In a time when many people from different countries migrate to find better job opportunities or living conditions, it has become more difficult to maintain cultural and family values, which may be the reason for the increase in family marriages among immigrants.

For example, in Arab families or Pakistani immigrants to England, Canada, America, or Australia, cousin marriage is extremely common. English researchers have announced in a new study that the number of cousin marriages in England has increased in the past three decades, with most cases being among British-Pakistani individuals. Approximately half of these marriages are between first cousins, and the children born from these unions are ten times more likely to have genetic disorders compared to others. In addition, there is a higher risk of infant mortality, learning disabilities, vision or hearing impairments, and birth defects in these infants.

These children, when they grow up, are more at risk for infertility or miscarriage than others. It has been said that marriage with close relatives (cousins, uncles, aunts, and uncles) poses a risk for genetic problems and miscarriage, similar to giving birth at the age of over 40. However, critics say that just as we cannot ban giving birth at an older age, we cannot ban cousin marriage. We just have to be aware of the potential risks.

In Pakistan.

Health investigators have announced the prevalence of thalassemia in Pakistan to be around 2 million people, and one of the reasons for its increase is believed to be consanguineous marriages. However, “thalassemia minor” is not a deadly disease, but as a result of consanguineous marriages, there is a possibility of a child being born with “thalassemia major”, which is a deadly disease. The only way to prevent thalassemia is to prevent the birth of such children. For this reason, the Pakistani government has started the project of preventing the spread of thalassemia since 2005. However, political and social considerations have slowed down its progress, but it is still ongoing.

During this project, it has been announced that familial marriages can be one of the causes of a person being affected by thalassemia, and individuals have been asked to undergo blood tests before getting married. In order to inform the public about this national project, the government has used newspapers, posters, radio, and television. Additionally, doctors are seeking the help of religious scholars to allow abortion if it is determined that the fetus is affected by thalassemia, in order to prevent the birth of a thalassemic baby.

In Saudi Arabia.

Marriage in Saudi Arabia has been a clear and simple matter for centuries; they believe that marriage should take place within the family and with someone like a cousin, aunt, uncle, or at least a member of the tribe who accepts and supports the spouse’s principles. They also prefer to marry within the family to preserve their wealth. In addition, Saudi Arabia is a country that is still heavily influenced by its tribes and people from each tribe usually prefer to marry within their own tribe. This has caused many genetic disorders to still exist in some tribes that have been present for thousands of years.

However, health officials, religious individuals, and media have started to issue warnings and discuss the dangers of familial marriages. Researchers have found that approximately 57% of marriages in Saudi Arabia are between relatives, which has led to a 20-fold increase in genetic disorders in the country compared to the standard rate. Some rare genetic diseases have even become a distinguishing characteristic for certain tribes and have been ongoing from the past until now. However, efforts have been made to reduce the frequency of marriages between close relatives and young people are allowed to marry strangers to a certain extent.

In some government centers, religious leaders warn young men to choose their wives carefully and prioritize the health of their children. Discussions are also held with young people about the importance of undergoing genetic testing before marriage. The government centers in Saudi Arabia have had good cooperation with the World Health Organization in these matters. Of course, in other countries around the Persian Gulf where there are many foreign workers, marrying someone of the same nationality is of special importance. This has become so important in sparsely populated countries that countries like Kuwait and the Emirates provide financial assistance and housing to those who marry someone from their own country.

In America.

America is the only country that has laws against marriage between close relatives. For this reason, in February 2010, marriage between these relatives was once again declared illegal in 30 states in America. Of course, marriage between close relatives was legal in America before World War II, but it was banned after the war. At that time, a genetic specialist wrote a book in which the benefits of marriage between non-family members were mentioned. According to him and many others, familial marriage was a sign of barbarism. Then another researcher in Massachusetts conducted a study on individuals who had mental and intellectual problems and concluded that these problems were caused by familial marriage. In the following years, many similar reports were received, which eventually led to the condemnation of familial marriage and these laws are still in effect today.

In Europe.

The opinions about family marriage in Europe are different from America. This type of marriage has been common since ancient Rome and today, only Austria, Hungary, and Spain have banned marriage between close relatives in the continent of Europe. This ban began in the 19th century and still continues, but there is no ban on this relationship in England.

In Africa.

In Africa, about 35% of marriages are estimated to be familial. In Nigeria – one of the most populous countries in Africa – there are three major tribes, and in one of these tribes, most marriages are familial, but in other tribes, which are mostly Christian, familial marriages are prohibited. In Ethiopia, despite the fact that most people are Muslim, familial marriages are very rare.

In other regions of the world.

In India, marriage with close relatives (cousins, aunts, uncles) varies from region to region. Among Indian Muslims, it is common, but among Hindus, it is prohibited. However, among Hindus, there are different beliefs depending on the region. In countries like Taiwan, Korea, and the Philippines, marriage with close relatives is also prohibited, but in Japan, there is no such restriction. China also passed a law in 1980 prohibiting marriage with close relatives.

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It is essential to mention again that genetic counseling is necessary before marriage, not only in familial marriages but also in non-familial marriages, as the risk of genetic abnormalities in any marriage is possible. However, in some cases, genetic counseling is deemed necessary: familial marriage, the presence of a disabled individual or congenital disease in the family of either spouse, a history of infertility or miscarriage, and pregnancy at the age of over 35.

Note:

This article has been written using information from the website “Pars Genome Genetic Clinic”, “House of Nation News Agency”, and the Encyclopedia of Growth.