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Genetic Disease Screening for Those of Ashkenazi Jewish Descent

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At the Jewish Genetic Disease Screening Program at Boston Medical Center, preconception screening and genetic counseling are offered to those at increased risk for passing certain genetic disorders onto their children due to having Ashkenazi Jewish (Eastern European) ancestry.

Services begin with a personalized risk assessment, followed by counseling and screening for genetic diseases more commonly carried by people of Ashkenazi Jewish descent. The care team remains up-to-date on the field of Jewish genetic screening to ensure patients are receiving testing for a thorough panel of diseases, as well as Tay-Sachs disease sequence-based testing for the maximum sensitivity. If test results indicate that one or both members of a reproductive pair carry a hereditary disease, the care team will provide education and support needed to make informed reproductive decisions.

Genetic services include:

  • Personalized risk assessment
  • Carrier screening
  • Reproductive counseling
  • Discussion of reproductive options for carrier couples reproductive pairs who are both carriers of the same condition

Is Genetic Testing Covered by Insurance?

Genetic screening is very important, but can be expensive. Fortunately, Massachusetts commercial insurance companies often cover Jewish genetic screening, even for patients who are not yet pregnant. It is recommended that screening be sent to a laboratory that communicates coverage prior to the testing process or has an out-of-pocket maximum. Most people will pay nothing or very little. Some people may have to pay for a portion of the test (if there is a deductible or co-insurance). Testing costs used to run in the thousands, but newer technology has lowered the costs at some labs. If insurance does not cover the testing, there are options around $250.

Those with public health insurance or questions regarding this genetic screening should contact Dr. Jodi Hoffman at 617.414.4841 for current information. Partner screening is often covered by insurance or provided at a discounted rate of $100 is some cases.

What Are Jewish Genetic Diseases?

Jewish genetic diseases are the conditions that are more often carried by people of Ashkenazi Jewish ancestry at a high or higher rate that people of other ancestral backgrounds. Each ancestral background has its own set of genetic conditions. Our program recommends preconception screening for an expanded panel of genetic diseases for people of Eastern European descent (Ashkenazi background). Screening panels are continuously expanding and tend to include diseases seen in those of diverse ancestral backgrounds.

While these genetic diseases occur more frequently among people of Ashkenazi Jewish ancestry, Tay-Sachs disease also occurs with increased frequency among people of French-Canadian, Cajun, and Irish descent. The team can provide genetic counseling, screening, and treatment to anyone who suspects their family ancestry may place them in a high-risk category, as well as others who are not know to be at higher risk.

Bloom Syndrome

Individuals with Bloom syndrome have short stature, sun-sensitive facial skin lesions, an increased susceptibility to infections and respiratory illness, and an increased predisposition to gastrointestinal cancers and leukemia. Some individuals with Bloom syndrome also have intellectual disabilities. Individuals with Bloom syndrome usually die at an early age, but some have survived until their forties. Men with Bloom syndrome are usually infertile, and fertility appears to be reduced in women.

Bloom syndrome is a rare disease that is most common in people of Ashkenazi Jewish ancestry. Approximately 1 out of every 100 people of Ashkenazi Jewish ancestry is a carrier of this disease, which is caused by a change in a gene located on chromosome 15.

Bloom syndrome is considered a "chromosome breakage" disease. This means that affected individuals have an increased rate of breakage and rearrangements of their chromosomes. Chromosomes are the structures in each of the cells in our body that contain our genes. Genes produce proteins and guide the development and maintenance of the body.

Early diagnosis of this disease can be helpful in monitoring and treating the manifestations of Bloom syndrome. Affected individuals should have increased cancer surveillance and should also decrease their exposure to sunlight and X-rays, which may cause damage to their chromosomes.

Canavan Disease

Canavan disease is a severe degenerative disease of the central nervous system. Most children with Canavan disease appear healthy at birth. It is not until three to five months of age that parents or caregivers may notice subtle concerns in the child—for example, a visual inattentiveness, tremors, grasping, or an inability to perform motor tasks, such as rolling over. These children eventually become blind and have problems with swallowing. They frequently die in childhood but may live into adolescence or even early adulthood.

Canavan disease is caused by the lack of an enzyme called aspartoacylase (ASPA). ASPA is essential in the breakdown of N-acetylaspartic acid (NAA). Without ASPA, NAA builds, leading to brain damage, intellectual disabilities, and the other problems seen in this disease.

Currently, there is no cure for Canavan disease. There are some treatments available for managing and relieving complications, including physical and occupational therapy, a feeding tube when eating becomes difficult for the child, and certain medications for seizures and relief of pain. Research is presently being conducted to determine the safety and efficacy of gene therapy for this disorder. Approximately 1 in 40 people of Ashkenazi Jewish ancestry is a carrier for this disease gene, located on chromosome 17.

Cystic Fibrosis

Cystic fibrosis (CF) is a disease seen with equal frequency in the those people who are primarily of a white/mixed European ancestry and people of Ashkenazi Jewish descent. This disease affects about 30,000 children and adults in the United States; approximately 1 in 25 people of white/mixed European ancestry carries a defective gene for the disease. Due to an abnormality in salt transport in people with CF, abnormally thick mucus is produced in the lungs, causing difficulty breathing and increasing the frequency of serious lung infections. The pancreas is unable to produce important enzymes necessary for the proper absorption and processing of fats.

CF has a variety of symptoms. The most common are: very salty-tasting skin; persistent coughing, wheezing or pneumonia; excessive appetite but poor weight gain; and bulky stools. The standard diagnostic test for cystic fibrosis measures the amount of salt in a person's sweat. A high salt level indicates that a person has CF.

CF is not yet curable, but in recent years, researchers have learned a great deal about the CF gene located on chromosome 7 and have developed many new treatments. CF treatment depends on how advanced the disease is and what organs it affects. Chest physical therapy, antibiotics, inhalation treatments, vitamin supplements, and enriched diets are a few of the many treatment options.

Dihydrolipoamide Dehydrogenase Deficiency

DLD deficiency presents in early infancy with poor feeding, frequent episodes of vomiting, lethargy, and developmental delay. As the disease progresses, affected individuals develop seizures, enlarged liver, and blindness, and they ultimately suffer an early death. DLD deficiency is also known as Maple Syrup Urine disease – Type 3.

Approximately 1 in 96 people of Ashkenazi Jewish descent are carriers of a mutation in the DLD deficiency gene, which is located on the long arm of chromosome 7.

There is currently no treatment or cure available for DLD deficiency. Dietary intervention was reported to be helpful in one patient, but other interventions are controversial.

Familial Dysautonomia

Familial dysautonomia (FD), also known as Riley-Day Syndrome, is a disease that causes the autonomic and sensory nervous systems to malfunction. The autonomic nervous system controls bodily functions such as swallowing and digestion, regulation of blood pressure and body temperature, and the body's response to stress. The sensory nervous system helps the body to taste, recognize hot and cold, and identify painful sensations. The disease is also known as HSAN III (hereditary sensory and autonomic neuropathy, type III).

The hallmark of FD is the lack of overflow tears with emotional crying. Children with FD may have difficulty feeding. They also may be unable to feel pain and can break bones or burn themselves without realizing they've been injured.

The disease is caused by mutations in the IKBKAP gene. An estimated 1 in 30 people of Ashkenazi Jewish ancestry carries the FD gene change, found on chromosome 9. Carriers don't display any symptoms or warning signs of FD.

Currently, there is no cure for FD. The lifespan of those affected with FD is often shortened. Treatments aim at controlling symptoms and avoiding complications. Treatment strategies can include using special feeding techniques and special therapies, medications, artificial tears, respiratory care, and orthopedic management.

Familial Hyperinulinemia

Familial Hyperinsulinism (FH) is characterized by hypoglycemia, which can vary from mild to severe. FH can present in the immediate newborn period through the first year of life with symptoms such as seizures, poor muscle tone, poor feeding, and sleep disorders. If left untreated, it can lead to irreversible neurological damage or death. In the more severe forms, dietary control only gives minimal improvement, and removal of the pancreas may be necessary.

Mutations in several genes have been associated with Familial Hyperinsulinism. Two founder mutations in the ABCC8 gene, located on chromosome number 11, have a carrier frequency of 1 in 66 among people of Ashkenazi Jewish descent.

Fanconi Anemia

Fanconi anemia is an inherited disorder characterized by a bone marrow failure in the first decade of life, resulting in reduced numbers of all types of blood cells in the body. Individuals with Fanconi anemia are usually smaller than average. Other symptoms associated with the disease may include missing bones in the thumbs and arms, increased risk for cancer and leukemia, brown coloring to the skin, and kidney problems. Ultimately, Fanconi anemia affects all systems of the body. Patients rarely reach adulthood.

Fanconi anemia is considered a "chromosome breakage" disease. This means that individuals affected with this disease have an increased rate of breakage and rearrangements of their chromosomes. Chromosomes are structures in each of the cells in our body that contain our genes. Genes produce proteins and guide the development and maintenance of the body.

Early diagnosis of this disease can lead to increased surveillance for leukemia and other cancers. Steroid therapy and bone marrow transplantation may be helpful in increasing the number of cells in the body. Affected individuals should avoid X-rays, chemotherapeutic agents, and other environmental exposures that may cause damage to their chromosomes.

Approximately 1 out of 89 people of Ashkenazi Jewish ancestry is a carrier for this disease gene, which is located on chromosome 16.

Gaucher Disease

There are three different types of Gaucher (pronounced go-shay) disease: type I, II, and III. Type I is the most common form of the disease; an estimated 1 in 14 people of Ashkenazi Jewish ancestry is a carrier. The gene is located on chromosome 1. The signs and symptoms of Gaucher disease vary greatly and can appear at any age. The most common symptom of type I Gaucher disease is painless enlargement of the spleen and/or liver with absence of central nervous system involvement. Other symptoms may include bruising, bone pain, frequent nosebleeds, and a lack of energy. Also, children with type I Gaucher disease are often shorter than their peers and may have delayed puberty.

People with Gaucher disease lack an enzyme called glucocerebrosidase and are unable to break down a fatty substance in their cells. This fatty substance builds up in the liver, spleen, bone marrow and other areas of the body. This build-up leads to the medical complications of Gaucher disease.

Although there is no cure for Gaucher disease, there are some treatments available for managing and relieving the symptoms. Enzyme replacement therapy is an effective form of treatment, but is quite expensive and time-consuming. The treatment consists of a modified form of the glucocerebrosidase enzyme given intravenously. A newer therapy oral therapy, miglustat, is available for those patients who are not suitable candidates for enzyme therapy. These therapies can lead to improved quality of life for affected individuals and their families.

Glycogen Storage Disorder

Glycogen storage disorder - Type Ia (GSDIa) is due to insufficient production of an enzyme that is needed by the liver to convert sugar from its storage form (glycogen) to the form that can be used by the body to produce energy (glucose). People with GSD cannot maintain their blood glucose levels and develop hypoglycemia (low blood sugar) within a few hours after eating. Untreated, GSD1a causes seizures, liver and kidney dysfunction, poor growth, and short stature. Life expectancy can be greatly reduced if treatment is not initiated soon after birth. Treatment for GSD involves providing the body with an outside supply of glucose.

Two specific mutations in the gene causing GSD1a are carried by approximately 1 out of 71 people of Ashkenazi Jewish ancestry, and the gene is found on chromosome 17.

Joubert Syndrome

Joubert Syndrome 2 is characterized by structural mid- and hindbrain malformations. Affected individuals have mild to severe motor delays, developmental delay, decreased muscle tone, abnormal eye movements, and characteristic facial features. Additionally, there may be variable degrees of kidney abnormalities and retinal problems.

One specific change in the TMEM216 gene on chromosome #11 was found to occur in approximately 1 in 92 people of Ashkenazi Jewish descent.

Maple Syrup Urine Disease

Maple Syrup Urine Disease (MSUD) occurs when the body is missing an enzyme used to break down certain building blocks of proteins. Toxic substances accumulate in the body after ingesting protein causing brain dysfunction, seizures, and death if untreated. With lifelong strict protein restriction, children may survive, but often have mental retardation and may require frequent hospitalizations with illnesses. Their urine has an odor of maple syrup.

MSUD is carried by approximately 1 in 113 people of Ashkenazi Jewish ancestry, and the gene for MSUD is located on chromosome 6.

Mucolipidosis

Mucolipidosis Type IV (ML IV) is due to the absence of a protein important in the transport of certain fatty substances (lipids) in the body. These lipids accumulate to toxic levels throughout the body, causing disease.

Children with ML IV appear normal at birth, but by approximately one year of age begin to show signs of motor and mental delays. ML IV also causes eye problems, including clouding of the corneas, strabismus (crossed eyes), and degeneration of the retina, which may lead to blindness. The children are ultimately mentally retarded and live shortened lives.

No treatment is currently available for ML IV; supportive care is used to treat the symptoms.

Although ML IV can occur in any ethnicity, it is more common in individuals of Ashkenazi Jewish ancestry: approximately 1 in 100 is a carrier of ML IV. The gene is located on chromosome 19.

Nemaline Myopathy

Nemaline myopathy is characterized by muscle weakness, decreased muscle tone, and depressed or absent deep tendon reflexes. Muscle weakness is usually most severe in the face, the neck, and the proximal limb muscles. There are several different forms of the disease, with some being more severe than others. In the more severe forms, respiratory distress and feeding and swallowing difficulties are common and can lead to early death.

There are six different genes in which mutations have been found to cause Nemaline Myopathy. A single mutation in the Nebulin gene, located on chromosome 2, has a carrier frequency of 1 in 108 people of Ashkenazi Jewish ancestry.  Affected individuals with mutations in the Nebulin gene often have a milder form of the disease, although rarely, they can be more severely affected.

Niemann-Pick Disease

In Niemann-Pick disease, harmful quantities of a fatty substance accumulate in the spleen, liver, lungs, bone marrow and sometimes in the brain. There are two types of Niemann-Pick disease, type A and type B. Type A is more common among people with Ashkenazi Jewish ancestry, with an estimated 1 in 90 carrier frequency. The gene is located on chromosome 11.

Individuals with Niemann-Pick disease lack a substance called acid sphingomyelinase (ASM). ASM usually breaks down another substance in the body called sphingomyelin. If ASM is missing from the body, sphingomyelin builds up in certain cells and causes damage to the central nervous system, liver and lungs.

Children with Niemann-Pick disease usually appear normal at birth. The first signs of the disease appear at about three-to-five months of age. Progressive loss of early motor skills, feeding difficulties and a large abdomen occur at this time. There is no cure for Niemann-Pick disease. Children with Niemann-Pick type A usually do not live past 2 to 3 years of age.

Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) refers to a group of diseases which affect the motor neurons of the spinal cord and brain stem, which are responsible for supplying electrical and chemical signals to muscle cells. Without proper signals, muscle cells do not function properly and thus become much smaller (atrophy). This leads to muscle weakness. Individuals affected with SMA have progressive muscle degeneration and weakness, eventually leading to death.

There are several forms of SMA, depending on the age of onset and the severity of the disease. Two genes, SMN1 and SMN2, have been linked to SMA types I, II, III, and IV. Type I is the most severe form of SMA and is characterized by muscle weakness present from birth, often manifested by difficulties with breathing and swallowing, and death usually by age 2 to 3 years. Type II has onset of muscle weakness after 6 months of age, and can obtain some early physical milestones like sitting without support. Type III is a milder form of SMA, with onset of symptoms after 10 months of age. Individuals with Type III SMA often achieve the ability to walk, but they may have frequent falls and difficulty with stairs. The weakness is more in the extremities, particularly the legs. Type IV is the mildest form and is characterized by adult onset of muscle weakness.

SMA is most often caused by a deletion of a segment of DNA, called Exon 7 and Exon 8, in the SMN1 gene located on chromosome 5. Rarely, SMA is caused by a point mutation in the SMN1 gene. Carrier testing for SMA measures the number of copies of the deleted segment in the SMN1 gene. A non-carrier is expected to have two copies present (no deletion), while a carrier will have only one copy present (a deletion of one copy). However, carrier testing will not identify carriers of point mutations. Approximately 90% of SMA carriers in the among people of Ashkenazi Jewish ancestry can be identified with this testing method. It is estimated that 1 in 41 individuals overall is a carrier for SMA.

Tay-Sachs

Classical Tay-Sachs disease is an inherited, genetic disorder that causes progressive degeneration and destruction of the central nervous system in affected individuals. Babies born with Tay-Sachs disease appear normal at birth, and symptoms of the disease do not appear until the infants are approximately four-to-six months of age. It is at this time that these children begin to lose previously attained skills, such as sitting up or rolling over. They gradually lose their sight, hearing and swallowing abilities. There is severe developmental delay. These children usually die by the age of four.

Individuals with Tay-Sachs disease lack a substance in their body called hexosaminidase A (Hex A). Hex A is responsible for breaking down a certain type of fat called GM2-ganglioside. When Hex A is missing from the body, it cannot break down this fat. The fatty substance accumulates to toxic levels in the body, mainly in the brain and nervous system. There is no cure for Tay-Sachs, although research is on-going regarding possible treatment options.

An estimated 1 in every 25 people of Ashkenazi Jewish ancestry is a carrier for Tay-Sachs disease. The gene is located on chromosome 15.

Usher Syndrome Type 1F

Usher Syndrome Type 1F is characterized by profound hearing loss which is present at birth, and adolescent-onset retinitis pigmentosa, a disorder that significantly impairs vision. Affected individuals usually require cochlear implants to help with speech development. Balance is often impaired, and visual acuity typically begins to decline around age 10.

A mutation in the PCDH15 gene, located on chromosome 10, has a carrier frequency of 1 in 141 people of Ashkenazi Jewish descent. Currently, there is no treatment for Usher Syndrome Type 1F.

Usher Syndrome Type III

Usher Syndrome Type III is milder than type I, but it still causes progressive hearing loss and vision loss. Hearing is often normal at birth with progressive hearing loss typically beginning during childhood or early adolescence. Vision loss due to retinitis pigmentosa begins to develop in adolescence and is also progressive, often leading to blindness by adulthood. The rate of decline of hearing and vision can vary from person to person.

A mutation in the CLRN1 gene, located on chromosome 3 has a carrier frequency of 1 in 107 people of Ashkenazi Jewish ancestry. Currently, there is no treatment for Usher Syndrome Type III but hearing loss can be managed with hearing aids and possible cochlear implant.

Walker-Warburg syndrome

Walker-Warburg syndrome is a severe muscle, eye, and brain syndrome. It presents with muscle weakness, feeding difficulties, seizures, blindness, brain anomalies, and delayed development. Life expectancy is below three years. The carrier frequency in the Ashkenazi population for one Ashkenazi founder mutation is approximately 1 in 149, and the detection rate is 95%.

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