Many genetic diseases occur more frequently in people of certain ethnic backgrounds. That is why it is important to understand how your ethnic background affects your risk to have a child with a genetic disease.

For example, sickle cell disease occurs more commonly in African-Americans, Tay-Sachs disease in people of Ashkenazi (eastern and central European) ancestry, thalassemia in people of Middle Eastern and Mediterranean descent and cystic fibrosis in Caucasians.

Many of these ethnic-based genetic diseases are inherited in an autosomal recessive pattern. This means that two copies of a mutated gene, one from each parent, are necessary to cause the disorder.

People with only one copy of a mutated gene are known as carriers. In most autosomal recessive conditions, carriers do not have any symptoms of the condition and, therefore, are often unaware that they are a carrier until they have a positive carrier test or have an affected child.

The risk of having a child with these genetic diseases is based on the inheritance pattern, as well as both of the parent’s ethnic backgrounds. Couples who are of the same ethnic background may have a higher risk of having a child with autosomal recessive disorders than couples who are of different ethnic backgrounds.

• Couples who are also related to each other by blood, such as cousins, may have an even higher risk.
• A family history of a disorder can also further increase the risk to have an affected child.

Understanding your risk to have an affected child is the first step to making an informed decision about carrier testing before or during your pregnancy. To better understand your risk, you can use our Family Health History tool to analyze your ethnic background and family health history.

Thankfully, most babies are born healthy, but every pregnancy is at risk for a birth defect. That is why is may be helpful to speak with a genetic counselor, a medical professional trained in assessing the risk for birth defects and genetic disorders, before or during your pregnancy.

Two common reasons that people seek prenatal genetic counseling are maternal age and a family history of a hereditary disease.

Maternal Age

As women age, their eggs age, and consequently, their risk of having a child with a chromosome abnormality increases. Down syndrome (also known as Trisomy 21) is the most common chromosomal abnormality and people with Down syndrome have varying degrees of mental retardation and physical birth defects.

In 2007, the American College of Obstetrics and Gynecology (ACOG) recommended that all pregnant women, regardless of age, be offered screening for Down syndrome, as well as the option of diagnostic testing.  Diagnostic testing can tell with greater than 99% accuracy whether or not a pregnancy is affected with Down syndrome, Trisomy 18 and other chromosomal abnormalities, as well as certain genetic diseases (if indicated).

The decision to have genetic testing is highly personal and a genetic counselor may help a couple make an informed decision about whether or not to pursue genetic testing.

Family History of Genetic Disorder (or Conditions Associated with a Genetic Disorder)

Your family health history is one of the most important tools in assessing the risk to have a child with a birth defect and/or genetic disorder. A genetic counselor will ask questions about your family health history including your reproductive history, major health conditions, known genetic disorders, age of disease diagnosis, lifestyle factors and ethnicity.

Inherited Health’s Family Health History tool allows couples to securely input their family health history online and obtain a personalized assessment of the risks to their pregnancy. Risk assessment is also possible before a couple is even pregnant. By understanding your risks, you can make more informed healthcare decisions with your provider and be a better advocate for your baby’s health.

There are a number of reasons why your pediatrician may recommend that your child meet with a medical geneticist, a doctor who specializes in the diagnosis and management of genetic diseases and syndromes. Some of these reasons include:

• Abnormal results on newborn screening
• Growth abnormalities
• Physical abnormalities or malformations (such as heart defects, spina bifida, etc.)
• Mental retardation or development delay
• Autism
• Seizures and epilepsy
• Evaluation for a suspected genetic condition or chromosome abnormality
• Blindness or deafness
• Family history of a known or suspected genetic condition, congenital birth defect, or chromosome abnormality

Genetic consultations take on average 60 minutes. Pediatric consults may require multiple visits over time as different features may become apparent at specific ages or developmental stages.

In addition to the medical geneticist, a genetic counselor may also participate in the consultation. Genetic counselors are specialists trained in both medical genetics and counseling.

At the appointment, the doctor or counselor will begin by taking a detailed personal and family health history by creating a family health tree called a “pedigree.” The doctor may also perform a physical exam. All of the information gathered in the consultation will be evaluated along with any other relevant genetic and non-genetic test results to:

• Assess genetic risks
• Diagnose, confirm, or rule out a suspected genetic condition
• Discuss diagnostic genetic testing options
• Discuss condition management or treatment.

Before a genetic consultation, it is helpful to collect your family health information from relatives including disease diagnoses, age of disease onset or death, genetic testing results, as well as non-genetic, medical testing results.

Inherited Health’s Family Health History tool allows you to collect, document and update your family health history online so it can be conveniently printed before any doctor’s appointment.  When you better prepare for your appointment, you can be a better advocate for your child.

Every year it seems like more and more genetic tests are offered during pregnancy. Due to a recent recommendation made by the American College of Medical Genetics (ACMG), the latest carrier test to be offered by OB/GYNs and genetic specialists is for spinal muscular atrophy (SMA).

What is SMA?

The number 1 inherited cause of childhood death, spinal muscular atrophy is a group of devastating genetic disorders that affect muscle movement and cause muscle degeneration and weakness. SMA is divided into types (SMA Type 0 – SMA Type IV) based on symptom severity and the age of symptom onset.

How is SMA inherited?

SMA has autosomal recessive inheritance, which means that two alterations, one in each gene copy, are necessary to cause the disorder. People with only one mutated copy are called carriers. Two carriers have a 25% chance to have an affected child, but do not typically have symptoms themselves. As such, carriers of SMA may not know they have a mutation until they have an affected child.

What is your chance to have an affected child?

A family history of SMA can significantly increase your chance to be a carrier.

For example, if you have a sibling who is a carrier of SMA, you have a 50% chance to also be a carrier. If you have a first cousin who is affected with SMA, you have a 25% chance to be a carrier.  If you have a child with SMA, you and your partner have a 100% chance to both be carriers, and a 25% chance to have another affected child.

Even if you have NO family history of SMA, you can still be a carrier.

In the absence of a family history, the risk of being a carrier is based on your ethnic background, as SMA is more common in people of certain ethnic backgrounds.

Understanding your risk is the first step to making an informed decision about carrier testing. To better understand your personal risk, you can use our Family Health History tool to assess the risk for SMA in addition to over 200 other hereditary diseases.

Making a family tree can be much more than just an interesting hobby.  You can create a “healthful” legacy for your children by adding information about the diseases that have occurred in your family – turning your family tree into a family health tree.

Your family health history can help identify the hereditary diseases you are more likely to develop and pass down to your children. It can even be life-saving.

When you document your family health history, you can share it with your doctor and child’s pediatrician who may use it to:

• Assess your risk of certain diseases
• Assess the risk to your relatives including your children
• Diagnosis a health condition
• Recommend more effective treatments
• Recommend lifestyle changes to help lower your disease risk
• Recommend preventative measures
• Determine which clinical, screening or genetic tests to consider
• Determine how frequently to screen and monitor for disease
• Refer you to a genetic specialist for further consultation

A family health history is only as helpful as it is accurate. This means that you may have to ask your relatives to fill in missing information. Once you have collected your family health history, make sure to update it when any major changes occur including diseases diagnoses, births, miscarriages and deaths.

An innovative alternative to pen and paper, Inherited Health’s Family Health History tool allows families to archive their history together in a secure online fashion. The inputted information is then analyzed to produce a Personal Health Guide, which identifies hereditary disease risks and ways to lower these risks. Families can privately share their health information amongst themselves or print their Personal Health Guide for their doctor.

Armed with this knowledge, we can all take steps to improve our health and that of our loved ones.