CJG Blog

Center for Jewish Genetics blog

Book Review: The Gene Machine By Bonnie Rochman

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Bonnie Rochman has knocked it out of the park (as us Cubs fans like to say) with her new book, The Gene Machine. Rochman, an award-winning journalist, provides an engaging and comprehensive account of the development of genetic screening in our generation.

Rochman starts by talking about how carrier screening has nearly eliminated the incidence of Tay-Sachs disease in the Jewish community. She chronicles the involvement of healthcare providers, rabbis and community leaders in the effort to inform Jewish and interfaith couples of the need for screening before starting a family. This effort – the first of its kind – is still considered one of the most successful community health programs ever undertaken and has served as a model for other public health efforts.

Dramatic advances in genetic technology over the last 15 years have given us the ability to screen more accurately for more diseases, Rochman explains. Genetic professionals, especially genetic counselors, have been working diligently to educate healthcare providers and community members about the importance of pre-conception and prenatal screening. With so much information available, genetic counseling is an essential part of the testing process.

Rochman also addresses the availability of advanced genetic technologies like pre-implantation genetic diagnosis (PGD). PGD allows carrier couples (for recessive diseases) and individuals with dominant genetic mutations, such as BRCA1 and BRCA2, to stop the transmission of these genes to the next generation through embryo selection.  According to Rochman, the fear of creating "designer babies" through this process seems unlikely at this time. That’s because most desirable character traits in children are a result of complex combinations of genes as well as lifestyle and environment. The overriding goal of couples going through this difficult and often costly process is to have a healthy baby.

In the chapter entitled, "Silencing of a Gene: The Future of Down Syndrome," Rochman interviews parents who have a child with Down syndrome. She raises moral, legal and ethical questions about how to deal with the future possibility of treating this common chromosomal abnormality while recognizing the humanity of individuals with Down syndrome and their families. 

Rochman concludes that we are swimming in uncharted waters. We know much more now than in previous generations, but there is still more that remains unknown. Most parents want their children to have an “open future” free from genetic predetermination but still want to be able to prevent serious disabling or fatal diseases from affecting them. There is no right answer for everyone. The challenge is how to manage the information available to us now and how to deal with uncertainty in the future.

"Although technologies now exist that our parents couldn’t have envisioned, the goal of most mothers and fathers remains the same: a healthy baby. Technology is just a means to an end, a way to make – and keep – children healthy." 

OPEN ACT Reintroduced In The House

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On Tuesday, December 13, 2016, the president signed the 21st Century Cures Act into law, after more than a year of bipartisan negotiations. This bill provides new money for the National Institutes of Health and additional funds for the FDA. It includes provisions for speeding up the approval of new drugs and establishing a new assistant secretary for mental health in the Department of Health and Human Services, as well as a chief medical officer. The bill also authorizes grants for areas such as suicide prevention, and seeks to improve the enforcement of "parity" rules that require insurance companies to cover mental health services to the same degree that they cover physical health services.  

Unfortunately, the final version of 21st Century Cures left out one of the key bipartisan provisions that would have brought needed treatments for the 30 million Americans with a rare disease. The Orphan Products Extensions Now, Accelerating Cures and Treatments (OPEN ACT; HR 971/S 1421) was endorsed by 173 national patient organizations and was included in the House-passed version of the 21st Century Cures Act, but was dropped from the final bill. The OPEN ACT would provide an incentive for companies to repurpose existing drugs for rare disease indications, which is substantially faster and more cost-efficient than traditional drug development. This legislation is critical to accelerating the drug development process and helping ensure the translation of new research into life-saving treatments for patients. The updated draft of 21st Century Cures is a missed opportunity to save and substantially improve the lives of patients with rare diseases. [1]

On February 27, the OPEN ACT was reintroduced in the House of Representatives as H.R. 1223 by Representatives Bilirakis (R – FL) and Butterfield (D – NC).  Several other representatives have also signed on as co-sponsors. Senators Hatch (R – UT) and Klobuchar (D – MN) plan to introduce companion legislation shortly.  According to the EveryLife Foundation, "Congress should incentivize the repurposing of potentially life-saving drugs for rare diseases and pediatric cancers. Similar incentives have been critical in the development of new medicines for underserved patient populations and could lead to hundreds of safe, effective and affordable rare disease treatments within the next five years." [2]

More information about the OPEN ACT and instructions to sign-on in support of the bill are available on the OPEN ACT webpage: http://everylifefoundation.org/open-act/

[1] Sullivan, Peter, thehill.com/policy/healthcare/310223-obama-signs-medical-cures-bill-into-law, 12/13/16

[2] http://everylifefoundation.org/open-act-reintroduced-u-s-house-representatives-hr-1223/

Colorectal Cancer: Know Your Family Health History

(Jewish Genetic Disorders) Permanent link

For most people, colorectal cancer screening begins around age 50. But some people need to be screened earlier based on certain risk factors. 

According to the CDC, you may be more likely to get colorectal cancer if you have a family history of the disease or a related genetic syndrome (such as Lynch syndrome or FAP). Collecting your family health history and sharing it with your doctor can help her make appropriate screening recommendations –  such as when you should be screened and which method is best for you. Your ethnic background may also play a role in determining risk. For example, Ashkenazi Jews have higher rates of colorectal cancer than other ethnic groups. Learn more about colorectal cancer in the Jewish community.

March is colorectal cancer awareness month. It’s a good time to start a conversation with your family, if you haven’t already. The Norton & Elaine Sarnoff Center for Jewish Genetics offers resources to help you get started with your family health history and assess your cancer risk.

Read more on this topic from the CDC.

Who Should Be Screened for Genetic Disorders? ACOG Releases Revised Statements

(Jewish Genetic Disorders) Permanent link

Did you know that 1 in 4 Ashkenazi Jews carries at least one "Jewish" genetic disorder? That’s why carrier screening is an important part of family planning for Jewish and interfaith couples. The Norton & Elaine Sarnoff Center for Jewish Genetics provides an affordable and accessible screening program for:

  • People of Ashkenazi Jewish descent (at least one Jewish parent, grandparent, or great-grandparent)
  • Sephardic Jews and their partners, who may consider expanded genetic screening
  • Non-Jewish partners, since none of the disorders are exclusive to the Jewish population

Now, screening guidelines are expanding beyond ethnicity. Because many people are of mixed or unknown ancestry, the American College of Obstetricians and Gynecologists (ACOG) recommends carrier screening for all women who are pregnant or considering pregnancy.

According to the newly released ACOG guidelines, all women should be screened for spinal muscular atrophy, cystic fibrosis, and certain inherited blood disorders. Women with unexplained ovarian insufficiency and/or family history of fragile X-related disorders should also be screened for fragile X syndrome. Our carrier screening panel meets – and exceeds – the ACOG guidelines. It tests for the conditions recommended by the ACOG, as well as additional panethnic and Jewish genetic disorders. Our comprehensive program is designed to help Jewish and interfaith couples identify their genetic risks so they can plan for a healthy future. Learn more about the conditions on our panel.      

Ideally, screening should take place prior to pregnancy. Couples who know their carrier status beforehand have the most options, and carrier couples build healthy families every day!

If you are a carrier, the ACOG suggests informing other family members of the genetic risk, as well as the availability of carrier screening.

Read the full ACOG Committee Opinion Summary:


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.


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 .