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Center for Jewish Genetics blog

Can Family Health Histories Help Us Identify Recessive Diseases?

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By Carol Guzman

In honor of November as Family Health History month, the Sarnoff Center and partner organizations are sharing information about certain health conditions that may run in families, and how to talk to your relatives about those conditions. You can find previous posts in this series here. 

Talking about your family health history at the Thanksgiving table is a vital tool when it comes to preventing hereditary cancers and passing on genetic diseases. However, other diseases, such as recessive genetic disorders, may go unnoticed and can be passed on generation to generation without directly affecting a family member. That’s because an individual must inherit two copies of the mutated gene, one from each parent, to acquire the recessive disease. If two people -- each with one mutated copy of the same gene -- have a child together, there is a 50% chance that their child will also be a carrier and not exhibit symptoms, a 25% change that the child will have no mutated copies of the gene, and a 25% chance that the child will be affected with the disorder. Most Jewish genetic disorders are inherited in this autosomal recessive fashion. 

For example, Canavan disease is one of many Jewish genetic disorders that can hide in families; this disease renders the nerve cells in the brain unable to send and receive messages. Although infants may appear normal at birth, by 3 to 6 months they lack muscle tone and head control making them appear ‘floppy’. 

Orren Alperstein and Seth Gelblum, founders of Canavan Foundation for the Prevention & Cure of Canavan Disease, did not have family members affected with Canavan disease and found out that they were carriers once their child was diagnosed with the fatal disease. At the time, carrier screening for Jewish genetic disorders was not available. Instead, they learned from their doctor that their second daughter, Morgan, would not reach certain developmental milestones such as walking, talking, or holding up her head up on her own. Orren and Seth continue to advocate for preconception carrier screening and hope to serve as an example that carrier couples can build healthy families.

If you or someone in your family is planning to start their own family, it is important to know that:

  • Everyone carries 6-8 changes in their genes, no matter their ethnic background. While most of these changes are harmless, some can cause sever genetic disorders
  • Furthermore, 80% of babies with genetic disorders are born to parents with no known family history of that disease
  • Talking to a genetic counselor about your and your partner’s ethnicity and family health history can help them direct you to a panel that is best for you
  • If you do know that you have a family history of a certain recessive condition, it’s important to mention that to doctor and see a genetic counselor when family planning
  • The Norton & Elaine Sarnoff Center for Jewish Genetics has a convenient online, on-demand carrier screening program that is accessible to all Jewish and interfaith couples in Illinois
  • Ideally, couples should get carrier screening prior to pregnancy to understand their risks and options
  • If both you and your partner are carriers for the same disease, a genetic counselor can walk you through the various options available for you to build a health family

Family health histories are helpful to learn what steps we must take to reduce our risk of certain genetic diseases that have been passed down within our family. Whether or not our family health history sheds information on recessive disorders that we and our family members may be carriers for, it can still help us plan for our own health and the health of our future family.  Fortunately, there are additional steps we can take when planning for a family – such as carrier screening – to learn about our risks of passing on recessive genetic disorders.

You can learn more about family health history and find tools to capture yours here. If you have additional questions about genetic health conditions or family health history, please contact the Sarnoff Center at (312) 357-4718 or JewishGenetics@juf.org and ask to speak to our genetic counselor.


Talking to Your Family About BRCA-Related Cancers

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pink + teal

In honor of November as Family Health History month, the Sarnoff Center and partner organizations are sharing information about certain health conditions that may run in families, and how to talk to your relatives about those conditions. You can find previous posts in this series here. 

By Sarnoff Center staff

It seems as though we’ve all been touched by cancer in some way, whether it’s through the diagnosis of a friend, a family member, or even ourselves. But some families have multiple relatives affected by cancer, and often at young ages. In my own family, my aunt passed away from aggressive breast cancer in her 50s, and several of my dad’s cousins received breast or ovarian cancer diagnoses.

In some instances, a genetic mutation may explain why it seems as though cancer runs in the family. Jewish families in particular have increased risk of BRCA mutations, which are linked to breast cancer in men and women, ovarian cancer, prostate cancer, pancreatic cancer and melanoma. These mutations occur in about one in 40 individuals with Jewish heritage compared to about one in 500 in the general population.

BRCA mutations are inherited in an autosomal dominant fashion, which means that a parent with a BRCA mutation has a 50 percent chance of passing that mutation on to a child, and inheriting one changed copy is enough to increase risk. These mutations affect men and women, passing down from mothers and fathers to daughters and sons.

A Sarnoff Center associate board member shared her family’s story in an earlier blog post, recalling that she first heard about BRCA when she learned that the mutation affected her family. Her experience isn’t uncommon; after all, genetics is a family affair. If one person learns they have a BRCA mutation, it’s important to share that information with other relatives so each person can talk to his or her care team.

While a person with a mutation in a BRCA gene has a significantly increased risk of developing certain cancers, not everyone with a BRCA mutation will develop cancer. On the other hand, just because someone does not carry a BRCA mutation, it does not mean they are not at a risk for cancer. One good way to help providers assess your personalized risk is to collect and share your family health history.

A few questions to consider when talking to your family about any history of BRCA-related cancers include:

  • Do we have Ashkenazi Jewish ancestry in our family?
  • Has anyone in our family been diagnosed with breast cancer (male or female)? If yes…
    • At what age did they receive a diagnosis?
    • Did they have triple negative breast cancer?
    • Did they have breast cancer and another type of cancer?
  • Has anyone in our family been diagnosed with ovarian cancer?
  • Has anyone in our family been diagnosed with pancreatic cancer?
  • Has anyone in our family been told they have a genetic mutation that increases their risk of cancer?

A genetic counselor can help you think through other questions to ask and how to start the conversation.

You can learn more about family health history and find tools to capture yours here. If you have additional questions about hereditary cancers or want more tips for how to start a conversation with your relatives, please contact the Sarnoff Center at (312) 357-4718 or JewishGenetics@juf.org and ask to speak to our genetic counselor. 

Thanks for Giving Your Attention to Depression

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NSOU Blog Picture

By Sari Steinberg and Miriam Ament 

In honor of November as Family Health History month, the Sarnoff Center and partner organizations are sharing information about certain health conditions that may run in families, and how to talk to your relatives about those conditions. You can find previous posts in this series here.   

You’re at Thanksgiving dinner and you notice that your niece Hannah is different.  You go through your mental checklist of signs and symptoms of depression, and she seems to be exhibiting five: irritable mood (she’s snapping at everyone); sense of worthlessness, guilt, or hopelessness (she’s refusing to apply to college); changes in diet, weight, or sleeping habits (she looks gaunt); loss of interest in favorite activities (she quit the basketball team); isolation from family and friends (she’s ignoring her cousins).  If those symptoms are ongoing, the probably indicate depression – whether or not she also has other symptoms such as an inability to focus, inability to make decisions, lack of energy, increased use of drugs and alcohol, and suicidal thoughts. 

A 2015 study by the Jewish United Fund’s Research Training Institute found that more than 25% of Chicago-area Jewish teenaged girls experience depression, and 75% of respondents reported knowing a teenage girl with a history of depression.  Depression is also prevalent among boys and adults. 

Depression often runs in families, with evidence pointing to a genetic predisposition, sometimes triggered by environmental factors such as childhood abuse.  Although scientists have not identified a single chromosome or a specific combination of genetics and circumstances, studies of twins and of adopted children have shown 40-50% heritability (Source: Stanford Medicine). 

Miriam Ament, who was hospitalized for depression in her late twenties and early thirties, has converted her depression from a paralyzing problem to a catalyzing condition.  After a decade of shame and fear, in part due to the unsympathetic reaction of a close friend, Miriam created No Shame On U, a nonprofit dedicated to eliminating the stigma and normalizing conversation surrounding mental health in the Jewish community and beyond.   

No Shame On U empowers family and friends with tips for approaching someone who has symptoms of depression.  For example: 

  • Do not tell the person to “snap out of it” 
  • Do not downplay the depression or say others have worse problems 
  • Listen, be supportive, and affirm the person’s worth 
  • Assure the person that this is not his/her fault 
  • Offer to help the person connect with a qualified professional
  • If the person displays warning signs of suicide, encourage him/her to seek help, or find someone who can provide it 

In addition, No Shame On U recommends programs such as Mental Health First Aid, a carefully designed curriculum that can help your family notice and respond in the best possible manner if your niece Hannah – or any other relative or friend – is struggling with depression. 

Thanksgiving is a great time to be with family. While genes may predispose people to have depression, the good news is that knowing how to spot symptoms and how to be supportive can also run in families – through good habits of attention and mindful response. Relatives who have open conversations about their family’s mental health history increase the chances of early detection, diagnosis, and treatment and, in doing so, make life better for their loved ones and for themselves.  

You can learn more about family health history and find tools to capture yours here. If you have additional questions about genetic health conditions or family health history, please contact the Sarnoff Center at (312) 357-4718 or JewishGenetics@juf.org and ask to speak to our genetic counselor. For more information about depression and other mental health conditions, you can contact No Shame on U at http://www.noshameonu.org/.

Celebrate Family Health Month with Us!

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ThanksgivingFamilyHistory

November is Family Health History Month. Because many families gather for Thanksgiving, it’s an ideal time to collect or update information about health conditions that impact your relatives. Knowing your family health history and sharing it with your healthcare provider can help identify whether you have any increased risk of certain health conditions and, if necessary, take steps to reduce that risk.

This month, we’ll explore several genetic conditions that may run in families, including:

  • Hereditary cancers
  • Mental health conditions
  • Jewish genetic disorders

We’ll focus on what we know – and, in some cases, don’t know – about inheritance of these conditions and how they may impact Jewish and interfaith families. Each post will feature a personal story as well as an overview of the condition and a conversation guide to talk to your relatives.

In addition to the genetic disorders we will feature this month, there are other health conditions that can run in families, such as certain types of heart disease, diabetes and others. When you talk to your family members about their health history, be sure to ask about all health conditions, including symptoms, age of diagnosis, and any lifestyle factors that may play a role.

We’ll update the blog with the next post in this series soon but if you are eager to get started, you can learn more about family health history and find tools to capture yours here. If you have additional questions about genetic health conditions or family health history, please contact the Sarnoff Center at (312) 357-4718 or JewishGenetics@juf.org and ask to speak to our genetic counselor.

Stay tuned! 

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Affordable, Accessible Genetic Screening in Illinois

Our affordable, accessible carrier screening program uses advanced technology to provide comprehensive screening for Jewish and interfaith couples. Visit our Get Screened page to learn more and register.

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Do You Know What's In Your Genes?

What is the most valuable gift you can give to your family? The gift of good health! There are many health conditions that run in families. Knowing your family health history can alert you to the potential risk for a variety of genetic disorders . Talk to your relatives for warning signs and assess your risk for hereditary cancers.

Did you know: Ashkenazi Jews are 10 TIMES more likely to have BRCA mutations, which significantly increases lifetime risks for hereditary cancers, so what does this heightened risk mean for you? Click here to learn more .