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The continuous scientific and medical research on people and genetics has led to the discovery of genetic diseases. These findings sparked the desire for researchers to start studying genetic diseases occurring within a specific ethnic group of people. It has been found that certain groups of people, Blacks, Hispanics, and even Jews, are at a higher risk and more susceptible of having or being a carrier for a specific, genetic disease based on their ancestry roots. For example, the sickle-cell disease is popular amongst African-American descendants while Gaucher disease, Cystic Fibrosis, and Tay-Sachs are most commonly found within the Jewish population. It is from looking back in history, studying the evolution of genes, specifically in Jewish people, and comparing them to genetic genes today that these discoveries were possible. These findings are important because it displays the impact genetics have had on Jewish people and communities.
The history of Jewish people plays a major role in all genetic findings and break throughs. In order to examine any gene closely, it is necessary to observe and compare people who share the same genetic origins. The main origins of most Jewish people can be traced back to three groups: Ashkenazi Jews from Europe, Sephardic Jews from Spain and Portugal, Middle Eastern or Oriental Jews. Exploring the history of these groups of Jewish people and studying their ancestry has allowed for genetic researchers to see which genes are unique and similar to all Jewish people and groups along with which genes have changed and mutated over time. It is known that genetic diseases occur when a mutation arises in a gene but how the mutation has occurred and what caused it to take place, within Jewish people, is the question at hand.
The findings on Jewish genetics and prevalence of certain diseases has come primarily from studying Ashkenazi Jews and Sephardic Jews. The reason for this is because most Jewish people can trace their origins back to one or the other and sometimes both of these groups. Although they are both considered European Jews, the Ashkenazi Jews and Sephardic Jews differentiate from their geographical locations; Ashkenazi’s were located in Eastern Europe and Sephardic in Spain and Portugal. This location difference created a variation in one another’s diet, language, dress, customs, etc. Over the centuries, all Jewish communities endured many challenges. These challenges involved being exiled from their homes and forced to move and spread throughout the world. This dispersion of Jews was commonly known as a diaspora; “the settling of scattered colonies of Jews outside Palestine or modern Israel” (Merriam-Webster). “Although the first American Jews were Sephardic, today Ashkenazim are the most populous ethnic group in North America” (Solomin & MJL Admin.) thus leading to the high percentage of Jewish people tracing their ancestral roots back to one of these two groups.
In studying Ashkenazi Jews, there has been major findings in the linkage between Jewish people and certain genetic diseases. It has “recently been estimated, as many as one in three Ashkenazi Jews, those with Eastern Europe descent, are carriers for certain genetic diseases” (National Gaucher Foundation, 2017). “The most common Ashkenazi genetic diseases are the following: Gaucher disease (1 in 10), Cystic Fibrosis (1 in 24), Tay-Sachs Disease (1 in 27), Familial Dysautonomia (1 in 31) and Spinal Muscular Atrophy (1 in 41)” (NGF Community Blog). All of these genetic diseases are recessive therefore, both parents need to be a “carrier” for the same gene in order for it to affect any future children. Although these genetic disorders have shown to be more common in Jews, this does not mean that only Jewish people are affected by the disease. Anyone is capable of inheriting one of these diseases because they are passed on through genetics. “It is estimated that everyone of Ashkenazi Jewish ancestry has a 1 in 5 chance of carrying at least one of the main Jewish genetic disorders” (Jnetics). This 20% chance of being a carrier, within the Ashkenazi population, did not occur over night but rather slowly increased as the mutated gene continued to be pass down and spread throughout the group.
This percentage is very high and there are many reasons as to why people think this is. One reason is because Jewish people, in the past and still today, typically marry other Jewish people. “Many years ago, Jewish communities were small and isolated, with members tending to marry within their communities”(Jnetics) and this allowed for the mutations of these genetic diseases to stay primarily within the Jewish group/people and not be lessened by the introduction of new genes. In other words, Jewish people marrying other Jewish people allows for no genetic diversity to take place making it harder for the mutated gene to evolve and no longer appear.
This is one example of how these genetic disorders have become prominent within Jewish people, the continuous passing down from generation to generation however, scientists have their own and different beliefs as to how these diseases have become prominent within the Jewish population. They “believe that certain disorders became more common among Ashkenazi Jews because of at least two processes: the “founder effect” and genetic drift” (Norton/Elaine S. Center)
As with all ethnic groups and people worldwide, genetic variation plays a major role in the appearance of certain genetic diseases however, the variation can be caused by a genetic drift. “A genetic drift refers to the increase in frequency of the gene as a result of chance” (Norton/Elaine S. Center) whereas the “founders effect” “begins with a mutation or change in a gene in one person in a small community” (NGF Community Blog). Both of these processes have led to the recent and rapid spread of Jewish genetic diseases over time.
A prime example of how the “founder effect” is thought to be a reason for the influx of these genetic diseases is because the original Ashkenazi Jews all descended from a small group of people known as the “founders”. These people left their ancestral homeland, traveled to Eastern Europe, in result of the Diaspora, which allowed for the community to grow in size but in isolation. Therefore, if “any mutation existing within the founders community were passed on to descendants” (NGF Community Blog). This is known as the “founders effect” because if any founder had a mutation and passed it on, those gene mutations would only become more and more frequent over time. An example of genetic drift, similar to how the “founder effects” takes place, is a result of the increase in frequency of genes. In other words, when people start to display a gene coding for a mutation more often than not this shows there has been a drift in the genomes present. The cause of a drift is also related to Jewish people marrying other Jews within their faith and community. When Jews marry other Jews, who have the same percentage of being a “carrier”, this allows for the gene to more frequently occur causing the normal gene to be taken over by the mutated one. “Over time, the prevalence of these mutations increased as more children were born, either as carriers of the mutation or people living with a genetic disease” (Sicherman).
Along with Ashkenazi Jews having certain genetic diseases linked to them specifically, the Sephardic Jews also have prevalent disease affiliated with their group. These diseases, in contrast to the Ashkenazi Jews, is based on country of origin. The genetic diseases that are most prominent, within this group of Jewish people, are also largely caused by recessive genetic mutations. “Like the Ashkenazi Jews, Sephardic Jews developed unique sets of genetic disorders because they were isolated reproductively from the populations around them” (jnetics.org).
Some of the common genetic diseases within this group are similar to that of Ashkenazi Jews, such as cystic fibrosis and spinal muscular atrophy, but others are unique. One major difference within the Sephardic Jewish population is the added factor of the subgroups: the Moroccan Jews and Iranian Jews. These two subgroups have distinct characteristics and their own gene differences caused by their geographical location. Therefore, “unlike Ashkenazi, who share ethnic commonalities regardless of country of origin”, Sephardi is a broad label” (Forward Staff). This makes it impractical to come up with a universal inherited genetic diseases panel for all Sephardic Jews because it depends on the distinct location of each ancestral roots. For example, each origin of Sephardic Jews has their own prevalent genetic diseases, some are similar to one another but others are unique, because of the variations created by isolation and location.
The studies of Jewish people and genetic ancestry has only recently started to take place. Although this study is early in the making, many findings have shown that most Jewish people do, in fact, exhibit commonalities from shared ancestors as well as differences shaped by the geographical location and even recent history. A major factor that has played a role in the wide spread of Jewish people sharing a common ancestry is because the entire Jewish population expanded from a small initial group of Jewish people who were forced to spread out in the world.
Overall, from the research of Jewish people, their genetic history, and their high percentage of being at risk for a genetic disease it is important for all Jewish people, especially those with Ashkenazi and Sephardic roots, to further expand their knowledge on the history of their own family lineage. This background check and understanding of the potential and high risks that are present amongst this group should help make Jews more aware and willing to seek help. There are plenty of ways for Jewish people to take positive actions and start planning, in advance, for the future and how to help prevent and lessen the spread of these genetic diseases.
Fortunately, we live in a time when genetic screenings are possible. This allows for people to be tested and learn all about their own genetics as well as their family genetics history. The information gained from screenings can be very beneficial especially for Jewish couples wanting to have children and start a family. This allows for the couple to know beforehand if either one of them are a carrier for any genetic disease which then could potentially impact their next step.
Today, there are many genetic screening organizations that allow for people to receive genetic testing however, there is one organization that has been created specifically for Jewish people and communities. This organization is a non-profit organization known as JScreen. It was a couple years ago that “NGF and JScreen, based out of Emory University School of Medicine, launched a collaborative carrier screening program to increase awareness of Gaucher disease and other genetic disease common to Jews” (NGF Community Blog ). This organization, alone, along with the volunteers and genetic counselors who work for JScreen have positively impacted and helped to change the course of Jewish people and their community as a whole. It is through their research, work, and studies that the spread of awareness for these diseases has become known. There are so many reasons as to why genetic testing matters such as “80% of babies with genetic diseases are born to parents with no known family history of that disease” (JScreen) however, this percentage can be lessen if more people got tested prior to having children.
In doing research on JScreen and finding out their ultimate goal, help spread awareness to Jewish people and provide them with reasonable (sometimes free) genetic screening tests, I had the pleasure of speaking with two representatives; a genetic counselor, Melanie Hardy, and free lance worker, Lilly Gelman. Both of these extraordinary females helped to elaborate on the work conducted at JScreen, share personal experiences, feelings, and an insiders perspective on the job.
In regards to the importance of genetic screening, especially for Jewish people, they both saw it to be helpful in many ways. As Gelman stated, “I always give two reasons for why I think it’s crucial to be tested. More broadly, I believe in the importance of personal knowledge, especially regarding one’s health and more specifically, because of the insularity of Jewish communities across all spectrums of observance, there is a high carrier rate which elevates the risk of having a child with a genetic disease” (Gelman). Similar to Gelman, Ms. Hardy sees the importance of screening but sees it “important for all individuals since we can all be carriers of conditions and (potentially) have a child affected. Testing to determine our risks is the best way to have the knowledge necessary to plan for a healthy family” (Hardy). As mentioned, all individuals, regardless of race, ethnicity, etc., can highly benefit from genetic screening but it is even more important for Jewish people to take advantage of this resource. Testing, especially before pregnancy, is the best way to understand the genetic makeup of each individual and give a person the proper time and education to help plan and obtain the healthy family everyone desires.
The first step is contacting JScreen and getting signed up for a screening however, what takes place after can be an emotional moment. After completing a screening, it takes about a week or so to get the results back. All screenings check for each individuals gene status and whether or not they are carriers for a genetic disease. Upon getting the results back, a meeting is set up with a genetic counselor, such as Ms. Hardy, to further discuss, go over them, and set up a plan of action if necessary. The reactions of people and how they cope with learning about their genetic test results, when they come back positive, can be very different from one person to the next. Ms. Hardy said she has seen a large range of reactions with “some people staying silent- just trying to process the information they are given, some react outwardly with tears, anger, or other emotions. Some people ask a lot of questions, while others have no idea what to ask. Lastly, some people are stoic and even upbeat about the news. I’ve learned not to have any specific expectation but see how the patient reacts and work with it” (Hardy). These reactions show that although it is important for Jewish people to get tested, it is not an easy task. This process can cause major stress and be upsetting however, JScreen is there to help by giving patients support and guidance.
There are many solutions that JScreen is able to provide patients after getting their test results back and showing they are positive/a carrier for one or several of the genetic diseases. For most people, they do show being a carrier and so it becomes necessary for their partner to get tested. It is only after the completion of both screenings will they be able to identify the likelihood of having an affected child. If only one is a carrier and the other is not, then their future children have the potential to be a carrier but if both partners are a carrier for the same genetic disease then there is a chance of having an affected child. In this case, Ms. Hardy said, “these are people considered with reproductive risks. We then discuss many possible options for them in regards to starting a family: IVF with PGT-M (testing embryos and only implanting those without the condition), using an egg or sperm donor (doesn’t carry the condition), testing a pregnancy to see if the baby is affected, adoption, and testing a child after birth and treating the condition (if that option is available)” (Hardy). As shown, JScreen not only provides genetic screenings but it helps people beyond their testing results. It is with the help of organizations, such as JScreen, that Jewish people and communities are able to overcome the health risks at hand.
Overall, JScreen is run by a small group of dedicated people who are striving to help all people, especially those with Jewish ancestral roots, overcome the adversity that has become part of their heritage. It is through JScreen, that Jewish people can obtain a genetic screening and be paired with a genetic counselor to provide them with a simple and thorough explanation of the testing results. It is nice to know that this is process is easy, informative, and confidential. It is from the information provided by JScreen that has impacted how Jewish people approach starting a family, consider who to marry or not to marry at all, while others have started to be open about genetic testing. This openness towards genetic results is now part of the Jewish identity which allows for people to share it with partners to help ensure the most positive outcomes for the family.
Although genetic screenings are very beneficial, they have started to create some controversy within certain Jewish groups. There have been times when ethical and legal concerns have been involved. For example, not all Jewish people agree with IVF treatments and using a donor to have a child but then what should people do who are at a reproductive risk of having an affected child? These controversial beliefs are only posed as a problem by a small group of Jewish people whereas a majority support these possible outcomes. In order to help lessen the continued cycle of these Jewish genetic diseases, it is important for people of Jewish descent to understand the importance of getting a genetic screening and taking proper caution after receiving their results.
The research on Jewish identity and genetics has helped to add and support this topic . In doing so, it is important to make Jewish people aware of the common genetic diseases that run in their ethnic group and letting them know the seriousness of each. Although it is impossible to change one’s genetics, it is possible to lessen the chances of a Jewish person inheriting a genetic disease. All Jews and people with Jewish roots should get a genetic screening because “1 in every 4 people of Jewish descent is a carrier for at least one of these diseases and these people are healthy and show no symptoms” (..) therefore, without taking a test carriers are unidentifiable and the cycle of mutated genes will continue to be passed on.
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- JScreen in association with Emory University. (2019). Reasons for Genetic Testing: Why It Matters. [online] Available at: https://jscreen.org/reasons-for-genetic-testing/ [Accessed 31 Mar. 2019].
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