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Center for Jewish Genetics blog

Calculated Risk: New Tool May Identify Genetic Warning Signs

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GP Appointment with Laptop

By Carol Guzman

Scientists at the Broad Institute and Harvard University have created a tool that catalogs more than 6 million spots in DNA to create an aggregated "risk score" for 5 common diseases. The New York Times reported last month that patients may soon be able to upload their genetic data to the new program to calculate their inherited risk for disease. 

Will this new algorithm help patients make better decisions regarding their health?

First, let’s briefly explore how this tool works. In biology class, we were taught that one distinct gene is responsible for your eye color and another for your height. Think Gregor Mendel's pea plants. These monogenic mutations are essential for carrier screening and tracking family history. 

However, observable characteristics and many diseases occur through polygenic inheritance – involving many genes. Each of the small changes alone may have a very small impact. Thus, looking at each of the 6 million genetic markers individually may not provide much insight, but when evaluated together, doctors may be able to better calculate an individual’s inherited risk of heart disease, breast cancer, Type 2 diabetes, chronic inflammatory bowel disease and atrial fibrillation.  

The NYT report describes the algorithm’s ability to aggregate the risk of all 6 million markers into a "risk score." As the NYT report describes, a patient’s assigned “risk score” may help doctors advise them on preventative care. While this holds a lot of promise, it also raises some concerns:

  • As genetic tests, such as this one, become more common in primary care practice, many more genetic counselors will be needed in general practitioners’ practices – As more genetic tests become available the need for genetic counselors continues to grow. The National Society of Genetic Counselors states there are currently 4,600 certified genetic counselors. That is one genetic counselor for every 78,000 Americans. (Read more: Can Genetic Counselors Keep Up with 23andMe?)

  • Your “risk score” is not an absolute determinant of your health, personal lifestyle choices have an affect You've heard of nature versus nurture. If an individual with a high “risk score” acts on preventative care advice, they may decrease their risk of having the genetic disease. The opposite can be true of someone with a low “risk score”. (Read more: How do your genes and the environment interact?)

  • There is a lack of diversity in genetic research, which means that this research and tool may be more relevant for some people than others – a problem for healthcare equality – Based on a study done by Nature, African and Latin American ancestry, Hispanic people and native or indigenous peoples represent less than 4% of genome-wide associate studies. (Read more: Genomics is failing on Diversity)

  • Taking advantage of this genetic tool could lead patients to risking their access to long-term care – impacting the insurance market place – As more high-risk individuals seek long-term care insurance and lower-risk individuals opt out of such policies, insurers will increase rates for policyholders, making the insurance marketplace unsustainable. (Read more: Does Genetic Testing Create a ‘Perfect Storm’?)

While we can debate pros and cons of a new tool, one thing we can all probably agree on? This is the way of the future. 

If you have questions about your genetic health, reach out to Sarnoff Center or your doctor.

New Partners Make the New Year a Little Sweeter

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Keshet

Much has changed about the Sarnoff Center since 2014, starting with the fact that we weren’t even the Sarnoff Center back then! We have an entirely different staff, a totally revamped carrier screening program, lots of new and expanded programming, and too many other changes to mention.

But 2014 marked the beginning of what has become one of the Sarnoff Center’s most popular traditions: our annual Rosh Hashanah gift bag initiative. We work with synagogues to distribute bags to congregants with honey sticks, caramel apple lollipops, along with a mini brochure about our services and programming.

That year, we had requests from just two synagogues, and one independent city minyan, totaling about 2,700 bags. Every year since, the requests have grown, and this year we will be distributing more than 11,000 bags to 30 congregations in the city and suburbs! This was our biggest year yet, and we knew we needed help.

So, we turned to our friends at Keshet, and their GADOL program. GADOL offers employment opportunities for young adults with intellectual disabilities. GADOL turned our project into a paid learning project for their team members. The experience also included working alongside volunteers from outside GADOL, which included Sarnoff Center staff and some of our Board members.

We are fortunate to do our work in a thriving, diverse Jewish community that affords us the chance to find new ways of working across agencies to serve different segments of our community. We are grateful to Keshet GADOL for joining together with us on this project, and we hope this will be the start of another annual tradition.

L’shana tovah!

What People Know About Jewish Genetic Health

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Needs-Assessment 

By Becca Bakal, MPH

Welcome to this first post in a series! In this three-part series, I’ll share the results of the Norton & Elaine Sarnoff Center for Jewish Genetics community needs assessment conducted over the past year. The community needs assessment findings will inform our future programming and outreach.

What is a community needs assessment, you may ask? Well, I’m glad you want to know! Community needs assessment involves gathering information from a population about its strengths and areas for potential growth.

At the Sarnoff Center, we spent the past year on our first comprehensive accounting of how people of Jewish ancestry and their families understand and engage with information about Jewish genetic health. 223 Jewish professionals and community members from around Chicagoland and Illinois participated in our needs assessment. You can read more about the process here.

In this post, I’ll share a few highlights of what we learned about the “state of the knowledge” around Jewish genetic health: what people know, and don’t know, about this topic.

Knowledge of Jewish Genetic Health Is Low

Overall, we found that knowledge of Jewish genetic health is low. People might be aware of Jewish genetic disorders and hereditary cancers, but they don’t know what these concerns mean for their own health or for their families’ health. Even the most highly educated needs assessment participants had trouble navigating all the genetic testing options they encountered.

Myths

We found that there are several common myths about Jewish genetic disorders that keep people from seeking information and genetic screening, when appropriate. For example, many participants thought that interfaith couples are not at risk of passing on Jewish genetic disorders. In fact, carrier screening is strongly recommended for interfaith couples because anyone can be a carrier for any disorder.1

Barriers to Learning About Jewish Genetic Health

In addition to myths, participants faced other barriers to learning about Jewish genetic health.

  • There was a prevailing sense of fear around genetic risk
  • Participants felt that issues related to family planning and cancer risk can be very personal

Participants said that "ignorance is bliss" and they would rather not learn more, because the information was "scary." Additionally, people don’t often want to seek information or resources in community spaces about these personal issues, and they may not know what to Google to find the information that would be most relevant to their situation.

In a handful of interviews and focus groups, participants shared that this project was their first exposure to Jewish genetic health topics. While this was not the experience of the majority, it illustrates what we found in the community needs assessment: that Jewish genetic health literacy is far from ubiquitous.

Next up, I’ll be discussing how life experiences and demographics influence exposure to Jewish genetic health information. A full report on our needs assessment is forthcoming, so keep an eye out for it on our website! 

1. https://www.acog.org/-/media/Committee-Opinions/Committee-on-Genetics/co691.pdf?dmc=1

Meet Carol, the Sarnoff Center Program Associate

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Carol Guzman

I am thrilled to be joining the Norton & Elaine Sarnoff Center for Jewish Genetics in the newly-created Program Associate role. I will be working on the Sarnoff Center recessive disorder screening program, educational initiatives, event planning, and the Center’s social media outlets. I grew up in Chicago and moved to Richmond, Virginia for college. I majored in Biology and minored in Religious Studies at the University of Richmond. The Sarnoff Center position offers a perfect melding of my passion of Biology and Jewish Studies which I have been missing since graduating college. I am excited to work in a science/health-focused nonprofit that aims to help the Chicago Jewish Community. Previously, I was a Campaign Associate for the Young Leadership Division at the Jewish United Fund. I currently enjoy attending summer festivals, concerts, and familiarizing myself with my new neighborhood, Lakeview.


Hey College Students, Here are 4 Things You Should Know About Your Genetics

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Students

By Emily Reisler, Lewis Summer Intern

College is a juggling act: classes, homework, extracurriculars, friends—it’s all-consuming. With full plates and packed schedules, we rarely think about our genes, and for some of us, rarely might even be a stretch. So let me simplify it all. Here are 4 important things we, as a college students, should know about genetics.


1. Each genome is one-of-a-kind.

Genome? What? If this already sounds like gibberish, bear with me and think back to high school biology.

Every cell in the human body contains genes. Genes act as instructions for making proteins, and each protein serves a particular function in the body. For example, some proteins form our hair, some our blood, and some our eyes. Some proteins serve as enzymes and others as hormones. Gene sequences vary from person to person, which is why we all have different traits; it’s why we all look and function differently.

Genes are packaged in units called chromosomes, and we all have two copies of every chromosome, one from dad and one from mom. That means we have two copies of every gene, one from each parent. Changes in gene sequences, or so-called mutations, can occur randomly during one’s lifetime or they can be inherited. Mutations have one of three effects: neutral, beneficial, or harmful.

 

2. Certain mutations occur more commonly within the Jewish population. 

Inherited mutations can have a “harmful” effect if they lead to genetic diseases, and many of these occur more commonly among Jews. Genetic disorders can follow an autosomal dominant pattern, meaning one mutated copy of a specific gene is enough to cause the condition. Or, they can follow an autosomal recessive pattern, meaning two mutated copies of a specific gene are required to cause the condition. Other patterns of inheritance exist as well. 

For autosomal recessive conditions, inheriting one mutated copy and one healthy copy of a specific gene makes you a carrier. Carriers often show no signs or symptoms of the disorder because their healthy copy of the gene compensates for the mutation’s deficiency. However, carriers have special things to consider. 

If two carriers of the same condition have a child together, there is a 25% chance each parent will pass down a mutated copy of the gene, resulting in a child with the disorder. To optimize your options when having kids, it helps to know what’s in your genes and what’s in your partner’s genes prior to conception. 

Hereditary cancers are another way mutations can have negative effects on the body, and some of these also occur more commonly among Ashkenazi Jews. BRCA1 and BRCA2 genes are types of tumor suppressor genes and, when healthy, they code for proteins that slow down cell division, repair DNA mistakes, and tell cells when to die. In sum, they protect our bodies against cancer. When one copy of a BRCA gene is mutated, the healthy copy produces enough functioning proteins, allowing us to fight off cancer. However, when both copies of the BRCA gene are mutated, cells produce none of those tumor-fighting proteins, and cancer develops.

With higher rates of BRCA mutations and increased risk of cancer, it is especially crucial for Ashkenazi Jews to know our family health history and know what’s in our genes. This way we can take proactive measures to protect our health.


3. Knowledge is power.

As you learned in point 2, we as Ashkenazi Jews have higher likelihood of carrying certain harmful mutations, and that comes with increased responsibility. We should all know our genetic risks so we can optimize our health and that of our future families. Unfortunately though, we can’t exactly find that information via Google search. 

This is where genetic counseling and screening comes in. Genetic counselors can advise you on whether genetic testing is right for you, which genetic tests to take, explain what the results mean, mitigate anxieties or concerns, and talk you through clinical options. Genetic screening is the actual test that tells you the contents of your genes—what mutations you carry and what risks you have.

These two services should be utilized at the proper time and given the proper circumstances.


4. You are not alone.

Mutations, disorders, and cancers are scary to say the least, but we luckily do not have to navigate the waters alone. Not only can we take advantage of genetic counselors, but we have another helpful resource in Chicago: the Norton & Elaine Sarnoff Center for Jewish Genetics. Among its multifaceted offerings, the Center provides genetic education, access to an in-house genetic counselor, and subsidized carrier screening for recessive disorders. They serve as a reminder that we’re navigating these concerns as a community, relying on one another for sympathy and support, and they help steer our collective towards a healthier, more informed tomorrow. Never hesitate to reach out to them with questions and concerns.


Photo credit: https://www.cdc.gov/features/school-start-times/index.html 

Think Before You Spit – Or Upload Your DNA Data

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DNA-data

By Emily Reisler

Direct-to-consumer (DTC) genetic testing has become all the rage in recent years. It’s easy, accessible, and moderately priced, so what’s not to love? A recent NYT story explores.

The article features a 29-year-old radiologist from Dallas, Texas, Dr. Joshua Clayton. Clayton wanted to learn more about his ancestry, so he ordered an ancestry testing kit through 23andMe. But then he went one step further. He sent his DNA profile generated by 23andMe to a another company that offers interpretation of raw data from direct-to-consumer tests. Using this third-party interpreter, Clayton sought to learn more about his health risks.

The results triggered alarm. They revealed that Clayton carried a mutation for Lynch syndrome, a disorder that can cause life-threatening cancers. But as a healthcare professional, Clayton knew to be wary of those results. He proceeded to double-check them using tests from a company with expertise in medical diagnostics, and he discovered that the third-party reports were wrong. He did not carry a mutation for Lynch syndrome and had no reason to worry.

Because the FDA limits what DTC companies–such as 23andMe–can test for, consumers may turn to third-party companies for further analysis of their raw DNA data. These third-party companies can provide more information about personal health risks; however, they do have a history of reporting erroneous results. The NYT article proceeds to explain why.                       

Mostly, third-party companies "are comparing a consumer’s raw data to gene variants reported to be linked to disease." They look for trends and patterns, as opposed to clinical laboratories that look directly for gene mutations and have stricter protocols for interpreting genetic changes. On top of that, the raw DNA data generated by DTC companies may contain mistakes, which boosts the likelihood of inaccuracies in third-party results.

Inaccurate genetic results can pose serious dangers for consumers. False positives for gene mutations provoke unnecessary alarm for consumers; false negatives trigger unwarranted confidence; and both scenarios could lead to poor medical decisions. While Dr. Clayton knew not to accept his third-party results as conclusive or diagnostic, some consumers might fall into this trap. 

Contributing to the confusion, DTC companies and third-party interpreters typically bypass a critical process: genetic counseling. Genetic counselors help clients seek dependable genetic tests, digest results, understand the implications, sort through personal concerns, and lastly, they can help clients navigate through options. With genetic counseling readily available, consumers do not need to navigate through genetic testing and consequent decision-making alone, which can become a daunting process.

All pitfalls and warnings considered, consumer genetic testing still has multi-faceted appeal for some: it can provide information about our ancestors, help us piece together a family tree, provide some information about health risks, and more. But, as the NYT article reminds us, we must be wary of these tests–and additional interpretation–just as Dr. Clayton was. They are not diagnostic or conclusive. The bottom line? If you're considering taking them, remember to think before you spit.  

Have further questions? The Sarnoff Center is always here to answer them.

Photo credit: https://www.flickr.com/photos/genomegov/ 

 

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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.

CJG-Whats-In-Your-Genes

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 .