CJG Blog

Center for Jewish Genetics blog

A DNA Test for My Dog

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Domino


By Sarah Goldberg


These days, it seems there is a genetic test for just about everything. Companies sell DNA tests with claims that range from uncovering your wine preference to providing insight into the most effective skincare routine and seemingly everything in between.

Ancestry genetic tests designed to help us better understand our geographic origins and connect with distant relatives – are among the most popular direct-to-consumer DNA tests, with more than 12 million kits sold.1

I often refer to these types of consumer offerings as recreational genetic tests – they can be fun, but they serve an entirely different purpose than the clinical health information we focus on at the Sarnoff Center: carrier screening and cancer risk education. With that in mind, I’m sharing my experience with an ancestry DNA test…. for my new rescue dog, Domino.

Domino’s name suits him. White with black spots, people stop us on walks almost daily to inquire about his breed and place their best guesses. Most often, people ask if he’s part Dalmatian or perhaps a Border Collie mix. For several months, my husband and I would sort of shrug and respond with our own theories: “He might be part American Staffordshire Terrier, part Australian Cattle Dog, and part Lab.”

Eventually my curiosity got the best of me. I jumped at a Black Friday deal on a dog ancestry test and a DNA collection kit arrived in the mail a few days later.

Similar to many human genetic test kits, it instructed us to collect cell samples from the participant’s cheek. As you may imagine, this proved a bit more challenging with a playful pup than with a consenting adult. After some bribery (and only minimal eating of the collection swab), I obtained a sample to mail off to the lab. Phew! Three weeks later, an email arrived with the results.

Any guesses before I reveal them?

According to the test, Domino is:

·       25% American Staffordshire Terrier

·       12.5% Boxer

·       12.5% Chow Chow

·       12.5% Great Pyrenees

·       37.5% Breed Groups2: Hound, Terrier, Companion, Sporting, and Middle Eastern and African

I’m certainly not alone in receiving ancestry test results that don’t align with my expectations. In Domino’s case, the results leave much of the ancestral question unanswered. But while his past remains a mystery in more ways than one, I don’t regret doing a dog DNA test. It provided a bit of insight into this sweet pup, and some fun along the way.

Sources:

1.     MIT Technology Review: 2017 was the year consumer DNA testing blew up

2.     Wisdom Panel

 


How a Government Shutdown Impacts Scientific Progress

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Government And Science

By Carol Guzman

In late December 2018, a partial government shutdown forced many federal agencies to close. While federal agencies are now open again, lost days may have a long-term impact on scientific progress. Furthermore, with a second government shutdown looming, scientific agencies must prioritize what work will be done while agencies are funded short term. Here is a look at some of the work, research and funding that stopped in agencies, departments, and projects across the country during the historic 35-day partial shutdown.

Agencies 

The Centers for Disease Control and Prevention: Budgets for the CDC were not tied up in government negotiations. The agency was able to release this year’s flu statistics, revealing that the flu hospitalization was lower this season than last year’s flu season.

Food and Drug Administration: During the government shutdown the FDA suspended many workers and instituted cost-saving measures to review applications for new drug and medical devices. Reviews are typically paid for by pharmaceutical companies; however, the FDA was unable to collect 2019 application fees during the shutdown. During the shutdown, the agency approved 23andMe's test for hereditary colorectal cancer test. The FDA cutback on routine food safety inspections on seafood, fruits, vegetables and other foods. 

National Institutes of Health: While the government already approved the NIH's funding for 2019, leaving its 27 institutes and centers relatively unaffected by the partial shutdown, the agency's grant process was in jeopardy. As a federal agency, the NIH was required to publish notices of upcoming proposal review meetings in the Federal Register, the public notice publication for federal agencies. Unfortunately, the publication was closed during the government shutdown. Final grant decisions, including grants for genetic studies, are made at meetings that must be disclosed in the Federal Register. The NIH continued to conduct clinical trials. 

National Science Foundation: The NSF awards and funds nearly $8 billion in science projects each year. Last year, the agency distributed $107 million in funding by early January. This year nothing was funded during the time of the government shutdown. The NSF has proposal review meetings to review thousands of applications from prospective graduate students hoping to win a Graduate Research Fellowship. Without these fellowships, graduate school programs may lower the number of students they admit this year. NSF workers have started processing proposals and delivering monetary awards that were frozen during the shutdown. 

Research

Missed Conferences: Many geneticists from the United States Department of Agriculture were unable to attend the Plant & Animal Genome Conference. Government researchers were not able to attend various conferences because of travel restrictions, impeding academic collaborations that typically ensue at these meetings.

Federal Funding: Many scientists who have their research funded with federal money are also experiencing complications. Scientists were not receiving the money necessary to continue their experiments, which for many has long-term impact on their work.  This impacts many colleges and universities

Ticking Clock on Research Materials: As experiments and paychecks were put on pause scientists were struggling to keep insects, plant and microbes, that are vital to their research, alive. The shutdown created significant setbacks for federal researchers who were at risk of having their research subjects die. Sneaking in to save experiments housed in federal facilities during the shutdown is in violation of federal law.

A Long-Term Impact?

The partial shutdown can potentially have a long-term impact on scientific progress, including genetics research. The NIH is the biggest funder of the biomedical research in the United States; their total budget for FY 2019 is $39 billion. Their budget has allowed them to financially back genetic researchers, studies, National Cancer Institute-designated Cancer Centers, the Cancer Moonshot cancer initiative and the All of Us precision medicine study amid the shutdown. The NIH's clinical trials continued during the shutdown, however, the agency did not admit new patients or implement new research proposals.

Pharmaceutical companies use government-funded research to create life-saving experimental treatments. Unfortunately, even though the FDA was carrying out reviews funded by their FY 2018 budget, their Investigational New Drugs (IND) program, the program which pharmaceutical companies obtain permission to start human clinical trials, did not review applications during the shutdown. The delay of the IND program hindered various potential drugs and clinical trials that could have helped cancer patients and individuals with genetic disorders. As the government deal is only set to keep the government funded through February 15th the delays for life saving treatments and clinical trials for those suffering from cancer or genetic disease may only continue.

Sources: 

What a partial US-government shutdown would mean for science

What the Government Shutdown Means for Science

Here’s how the record-breaking government shutdown is disrupting science

How a partial government shutdown could affect your health: ‘It’s narrow’

Partial Government Shutdown’s Impact On FDA Drug Approvals


From Science Labs to Facebook Clickbait: Is Science Up to Interpretation?

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Med-Lit

By Carol Guzman

A genetics study done by doctors or scientists could fill up multiple pages of a peer-reviewed journal. But when that study finds its way onto the nightly news or your Facebook feed, you’ll often find the research distilled down to a catchy headline.

Sometimes, the lack of details and context can leave the public with a misleading or altogether wrong takeaway. Tips to combat the growing tide of scientific misinformation and improve health literacy include:

  •  Approach health news with a healthy dose of skepticism. Most articles highlight a study’s positive results. Consider challenging your own assumptions and placing findings in context. It is easier to write a story on a study with positive results, or results that agree with what scientists are trying to prove versus negative or inconclusive results  

  •  Google the reported study.  When mainstream media reports on a scientific study, they typically include a link to the scientific/academic article. Check out a previous Sarnoff Center blog post with helpful resources on how to tackle reading scientific articles. 

  •  Evaluate the scientific journal’s reputation. Not all scientific journals are created equal, use resources like the Scimago Journal & Country Ranks to gauge the journal’s standing in the academic community.

  •  Check the scientists’ credentials: Look up the scientist’s academic profile or their intuitional affiliation. Is it a well-regarded university? Do their affiliations reflect a conflict of interest?

  •  Search for similar studies. Studies that are replicated or show results consistent across many studies are more likely to be solid. 

So many aspects of our lives – specifically, how we approach our health – rests on scientific research. News organizations tend to focus on bold and exciting headlines about provocative new studies, resulting in incomplete reporting and misinterpreted results. 

However, we cannot fault non-scientists for all the click-bait junk science articles. A single scientific study can fool many people, even if conducted by highly-regarded scientists . An aspect of what makes science so powerful is the ability to self-correct false findings. This occurs when another group of scientists chooses to replicate an older study and do not reproduce the same findings as the initial study. Another way this happens is when the initial group of scientists self-identify a mistake in their study that was able to slip through the cracks of a peer-review. Unfortunately, redactions or corrections are not as well publicized as initial studies.

As advances in genetic research shed light on how genes influence our lives, a small but vocal majority are using scientific articles to reinforce incorrect understanding. A newly released PBS documentary, “American Masters: Decoding Watson,” explores the life and legacy of Dr. James Watson, one of the discoverers of DNA’s structure in the early 1950s. Watson, now 90, is a controversial figure because he insists genes influence traits in different racial groups, despite many recent genetic studies concluding otherwise. 

It’d be easy to brush off the Nobel Prize winner’s tale as a story of an old man holding onto outdated ideas, but white supremacists are also twisting science to fit their ideologies. White supremacists have recently appropriated a study about a mutation of the gene responsible for digestion of lactose claiming that only those of European are able to digest milk into adulthood. However, had they read the academic article in its entirety they would have read that the mutation also occurred in other populations, individuals of East African ancestry.

Even with the best intentions, journalists and scientists may fail to accurately report the findings of a scientific study or article. Everyone, even winners of a Noble Prize, can misunderstand an article and spew incorrect information to the public. Scientific health literacy is a vital tool, start by questioning what you read and find better resources that can help you make informed decisions about you and your family’s health. 

Consider the tools/resources below as reliable resources for health-related news:

FORCE X-Rays Blog

Health News Review 

- The Sarnoff Center's Genetic Counselor is another available resource to help you answer genetics questions

How much credibility should you give to the results of a single DNA ancestry test?

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Arms 3

By Carol Guzman

With the rise in direct-to-consumer tests like 23andMe or Ancestry DNA, people can seemingly easily discover their biological roots. While many are not fazed by the results, which often confirm with a family’s vague oral history of itself, others see their findings as life-altering news that makes them question who they really are. A recent New York Times Magazine report followed one woman’s experience receiving test results that didn’t match who she believed herself to be.

Sigrid Johnson is one of the more than 7 million people who have taken the popular at-home tests, which promise to reveal ancestry and distill ethnic composition down to a pie chart. Johnson, whose biological father was black and biological mother was white, expected her DNA results to show she was half African and half Italian. When she took the test in 2015, her results showed she was 45 percent Hispanic, 32 percent Middle Eastern, 14 percent European, and 9 percent “other” – which included 2.9 percent African ancestry.

That 2.9 percent figure shocked Johnson. She told the Times the results made her afraid others in her community would think she was a fraud. “How can I not be black?” she said. “I lived black. I was black.” Johnson is not alone in this experience.

Earlier this year, Sen. Elizabeth Warren released her DNA results confirming that she has Native American ancestry after facing criticism from political rivals for listing herself as a minority in professional directories while working at Harvard Law School. Rather than relying on a direct-to-consumer test, Warren solicited help from Dr. Carlos Bustamante, a renown genetics specialist and advisor to Ancestry.com. He concluded that there was strong evidence of Warren having a Native American ancestor 6 – 10 generations ago. The Cherokee Nation disapproved of Warren’s course of action, claiming her use of ancestry testing as inappropriate and undermining tribal interests. The criticism and uproar were so intense that many on the left and right questioned whether her decision would impact her potential 2020 presidential campaign.

In August 2018, House Speaker Paul Ryan discovered he had Jewish roots while filming PBS’ “Finding Your Roots with Henry Louis Gates Jr.” While Ryan never knew of his Jewish ancestry prior to the show many Jewish people criticized him for not upholding Jewish values. Unlike Warren, Ryan wasn’t denounced for claiming a Jewish heritage but for not being Jewish enough.

During Hanukah Sen.- elect Alexandra Ocasio-Cortez revealed that after investigating her family history she learned her ancestors consisted of Sephardic Jews. She further explained that Puerto Ricans are descendants of Spanish colonizers, indigenous peoples, and Jewish refugees. Anticipating backlash, the incoming senator tweeted, “Before everyone jumps on me – yes, culture isn’t DNA.”

Ocasio-Cortez’s Tweet rings true: Judaism is not defined by specific percentages in our genetic code but rather how we choose to celebrate and honor our Jewish culture and religion. But it also raises a larger question: what is the relationship between our genes, our culture, and our identity? Consider individuals of Jewish ancestry, who have a higher risk of being carriers of genetic disorders whether they chose to identify as Jewish or not. And yet a convert considers Judaism a core part of their identity without having any Jewish ancestry. 

Sigrid’s core identity should not change just because her DNA test results do not align with the way she chooses to live her life. Ancestral testing is limiting and does not determine whether an individual has the authority to claim a heritage or culture.

Ancestry testing can be fun but does not provide a comprehensive picture of our identity and certainly is no substitute for health risk testing. For questions about carrier screening, cancer risk testing or other clinical genetic tests, please contact that Sarnoff Center.


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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 .