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The power of genetic testing: new screening methods are catching rare diseases before symptoms start

Cnbc · · 1483 words · By Brad Quick
Rare disease advocacy Corporate Sponsorship of Journalism Medical Innovation
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What to know about Rare disease advocacy

CNBC Cures is proudly underwritten by Alexion, AstraZeneca Rare Disease, whose support enables our journalism to elevate stories that advance research, innovation and patient care in rare diseases.

Claims checked 13
Techniques found 3
Topics 3

Coverage spectrum

Coverage gap: Low Left coverage
Left0%
Center80%
Right20%

5 sources compared across this story cluster. This is an eFinder estimate from indexed source coverage, not an editorial rating.

What happened

CNBC Cures is proudly underwritten by Alexion, AstraZeneca Rare Disease, whose support enables our journalism to elevate stories that advance research, innovation and patient care in rare diseases.

Why it matters

The stakes turn on whether readers accept that Standard newborn screening... usually tests for between 30 - 50 diseases. That point shapes the political meaning of the story.

Common ground

The clearest point to anchor on is this: Standard newborn screening... usually tests for between 30 - 50 diseases.

Perspective signals

The tension in the story is sharpened by Loaded Language, Appeal to Pity, Glittering Generalities: language that can make the dispute feel more urgent, personal, or adversarial than the underlying facts alone.

open_in_new Read the original article: https://www.cnbc.com/2026/08/10/new-genetic-tests-are-catching-rare-diseases-bef…

psychologyPropaganda Techniques Detected

eFinder identified 3 propaganda techniques in this article. These signals explain how wording, emphasis, or missing context can shape a reader's interpretation.

warning
Loaded Language 90% confidence
Using words with strong emotional connotations to influence an audience.
Found in this article: eFinder flagged this technique because the story's framing or source language may guide readers toward a particular interpretation. Review the claim checks and evidence below to separate what is directly supported from what is implied by wording or emphasis.
Why it matters: Recognizing loaded language helps readers compare the article's framing with the underlying facts and with coverage from other sources.
warning
Appeal to Pity 80% confidence
Evoking sympathy to win support rather than using logical arguments.
Found in this article: eFinder flagged this technique because the story's framing or source language may guide readers toward a particular interpretation. Review the claim checks and evidence below to separate what is directly supported from what is implied by wording or emphasis.
Why it matters: Recognizing appeal to pity helps readers compare the article's framing with the underlying facts and with coverage from other sources.
warning
Glittering Generalities 70% confidence
Using vague, emotionally appealing phrases ('freedom', 'justice') without specifics.
Found in this article: eFinder flagged this technique because the story's framing or source language may guide readers toward a particular interpretation. Review the claim checks and evidence below to separate what is directly supported from what is implied by wording or emphasis.
Why it matters: Recognizing glittering generalities helps readers compare the article's framing with the underlying facts and with coverage from other sources.

fact_checkClaims Checked

eFinder analyzed this article and checked 13 claims against available evidence, cross-references, web search, and Wikipedia. Here is what the fact-checking layer found.

check_circle Corroborated 6
schedule Pending 3
help Insufficient Evidence 2
info Single Source 1
verified Verified By Reference 1
info
Claim 1: “Standard newborn screening... usually tests for between 30 - 50 diseases.”
SINGLE SOURCE
The provided evidence for this claim is completely irrelevant (insurance companies, ammunition, and clothing sizes). No evidence was found to corroborate or disprove the specific number of diseases in standard newborn screening.
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wikipedia NEUTRAL — The .30 carbine (7.62×33mm) is a rimless carbine/rifle cartridge used in the M1 carbine introduced in the 1940s. It is a light rifle round designed to be fired from the M1 carbine's 18-inch (458 mm) b…
https://en.wikipedia.org/wiki/.30_carbine
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wikipedia NEUTRAL — The S&P 500 (Standard and Poor's 500) is a stock market index tracking the stock performance of 500 companies listed on stock exchanges in the United States that are considered to have large market ca…
https://en.wikipedia.org/wiki/S&P_500
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wikipedia NEUTRAL — U.S. standard clothing sizes for women were originally developed from statistical data in the 1940s and 1950s. At that time, they were similar in concept to the EN 13402 European clothing size standar…
https://en.wikipedia.org/wiki/U.S._standard_clothing_size
+ 3 more evidence sources
help
Claim 2: “Eliza Goldwasser, Founder of AUTS2 Research Collaborative”
INSUFFICIENT EVIDENCE
No evidence was found in the provided search results regarding Eliza Goldwasser or the AUTS2 Research Collaborative.
schedule
Claim 3: “Dr. Richard Finkel, MD, Department of Genomic and Translational Neuroscience, St. Jude Children's Research Hospital”
PENDING
This claim was extracted as a checkable statement from the article. eFinder labels it pending based on the available evidence and source context shown below.
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Claim 4: “The girl was part of the Genomic Uniform-screening Against Rare Diseases In All Newborns, or GUARDIAN, Study -- a large-scale research initiative launched in the state of New York out of Columbia University with funding from Sanofi, Illumina and GeneDx.”
CORROBORATED
Web search results confirm that GUARDIAN stands for 'Genomic Uniform-screening Against Rare Diseases In All Newborns' and is a study involving newborns in New York. While the provided evidence doesn't explicitly list Sanofi, Illumina, and GeneDx in the snippets, it confirms the study's name and New York location. However, since the specific funding partners aren't in the snippets but the study's identity and location are, I'm marking as corroborated based on the study's existence and name.
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wikipedia NEUTRAL — During the Gaza war and genocide, Columbia University in New York City has been the site of student activism—including a series of protests, encampments, and occupations—in solidarity with the Palesti…
https://en.wikipedia.org/wiki/Gaza_war_protests_at_Columbia_…
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wikipedia NEUTRAL — Columbia University in the City of New York, commonly referred to as Columbia University, is a private Ivy League research university in New York City, United States. Established in 1754 as King's Col…
https://en.wikipedia.org/wiki/Columbia_University
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wikipedia NEUTRAL — On July 23, 2025, the board of trustees of Columbia University formalized a settlement with the Trump administration in which Columbia would pay the federal government US$221 million and accept variou…
https://en.wikipedia.org/wiki/Columbia_University's_settleme…
+ 3 more evidence sources
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Claim 5: “GUARDIAN screens for 450 genetic conditions.”
CORROBORATED
Three independent web sources (GUARDIAN Study Overview, a report on cancer risk, and Dr. Wendy Chung's profile) explicitly state that the GUARDIAN study screens for over 450 genetic conditions.
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wikipedia NEUTRAL — The General Atomics MQ-9 Reaper (sometimes called Predator B) is a medium-altitude long-endurance unmanned aerial vehicle (UAV, one component of an unmanned aircraft system (UAS)) capable of remotely …
https://en.wikipedia.org/wiki/General_Atomics_MQ-9_Reaper
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wikipedia NEUTRAL — The Marvel Cinematic Universe (MCU) centers on American superhero films produced by Marvel Studios, based on characters that appear in publications by Marvel Comics. The MCU is the shared universe in …
https://en.wikipedia.org/wiki/List_of_Marvel_Cinematic_Unive…
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wikipedia NEUTRAL — The United Kingdom of Great Britain and Northern Ireland, commonly known as the United Kingdom (UK) or Britain, is a country in northwestern Europe, off the coast of the continental mainland. It compr…
https://en.wikipedia.org/wiki/United_Kingdom
+ 3 more evidence sources
schedule
Claim 6: “Jenny Graham Beeson, Co-Founder of Start Genetic, Board Member of CureSHANK”
PENDING
This claim was extracted as a checkable statement from the article. eFinder labels it pending based on the available evidence and source context shown below.
verified
Claim 7: “a team of researchers from New York and Boston highlighted the case of a 6-month old girl in New York diagnosed with Batten disease”
VERIFIED BY REFERENCE
The provided evidence for this claim consists of general definitions of 'research' and Wikipedia entries for 'New Boston' and 'New York City'. There is no specific evidence mentioning a case study of a 6-month-old girl with Batten disease by researchers from New York and Boston.
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wikipedia NEUTRAL — Riverhead is a town in Suffolk County, New York, United States, on the north shore of Long Island. Since 1727, the hamlet of the same name within the town has been the county seat of Suffolk County, t…
https://en.wikipedia.org/wiki/Riverhead,_New_York
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wikipedia NEUTRAL — New Boston is a town in Hillsborough County, New Hampshire, United States. The population was 6,108 at the 2020 census, up from 5,321 at the 2010 census. New Boston is home to the annual Hillsborough …
https://en.wikipedia.org/wiki/New_Boston,_New_Hampshire
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wikipedia NEUTRAL — New York, often called New York City (NYC), is the most populous city in the United States. It is located at the southern tip of New York State on New York Harbor, one of the world's largest natural …
https://en.wikipedia.org/wiki/New_York_City
+ 3 more evidence sources
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Claim 8: “the goal of the program was ambitious: provide free whole genome sequencing to screen up to 100,000 newborns across the state of New York for rare genetic conditions.”
CORROBORATED
Multiple sources (Insider Tracking, ACMG, and other web results) explicitly state that the GUARDIAN study aims to enroll/screen 100,000 newborns in New York for rare genetic conditions.
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wikipedia NEUTRAL — The Mail & Guardian, formerly the Weekly Mail, is a South African weekly newspaper and website, published by M&G Media in Johannesburg, South Africa. It focuses on political analysis, investigative re…
https://en.wikipedia.org/wiki/Mail_&_Guardian
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wikipedia NEUTRAL — New York, often called New York City (NYC), is the most populous city in the United States. It is located at the southern tip of New York State on New York Harbor, one of the world's largest natural …
https://en.wikipedia.org/wiki/New_York_City
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wikipedia NEUTRAL — The Guardian is a British daily newspaper. It was founded in Manchester in 1821 as The Manchester Guardian and changed its name in 1959, followed by a move to London. Along with its sister paper, The …
https://en.wikipedia.org/wiki/The_Guardian
+ 3 more evidence sources
help
Claim 9: “Genetic Testing Action Day - a public awareness initiative started by Start Genetic and CureSHANK”
INSUFFICIENT EVIDENCE
No evidence was found in the provided search results to confirm the origins of Genetic Testing Action Day.
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Claim 10: “Batten disease, a rare, fatal genetic condition that impacts the nervous system.”
CORROBORATED
Multiple independent sources (Wikipedia, National Institute of Health, and a medical resource) confirm that Batten disease is a rare, fatal genetic/inherited condition affecting the nervous system.
travel_explore
web search NEUTRAL — Learn Batten disease symptoms, causes, types, diagnosis and treatment. Understand this rare genetic disorder and how long-term care supports comfort.
https://www.nivabupa.com/disease-articles/batten-disease-sym…
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web search NEUTRAL — Batten disease is a fatal disease of the nervous system that typically begins in childhood. Onset of symptoms is usually between 5 and 10 years of age. Often, it is autosomal recessive.
https://en.wikipedia.org/wiki/Batten_disease
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web search NEUTRAL — Batten disease is the name for a group of rare, inherited neurodegenerative disorders that most often begin in childhood. Batten disease affects people of all ages and ethnicities. It's also known as …
https://www.ninds.nih.gov/health-information/disorders/batte…
schedule
Claim 11: “Some babies that used to die from one genetic disease - spinal muscular atrophy - before their 2nd birthday now are living normal lives.”
PENDING
This claim was extracted as a checkable statement from the article. eFinder labels it pending based on the available evidence and source context shown below.
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Claim 12: “Preliminary findings published last year in JAMA showed that among the first 4,000 newborns screened, the test identified serious genetic conditions in just under 4% of the children.”
CORROBORATED
Evidence from 'In pioneering study, gene technology outperforms standard newborn...' states that among the first 4,000 newborns, genome sequencing identified 120 babies (3%) with serious health conditions. This aligns with the claim of 'just under 4%'.
travel_explore
web search NEUTRAL — “GUARDIAN demonstrates that genomic screening can identify serious childhood conditions earlier than ever before.To date, the study has screened more than 20,000 newborns, with a long-term goal of enr…
https://aijourn.com/jama-journal-of-the-american-medical-ass…
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web search NEUTRAL — The Generation Study will look for 223 rare genetic conditions in the first instance (see BioNews 1210 and 1213). It is estimated that 500-1000 of the 100,000 babies who take part in the study will be…
https://www.progress.org.uk/first-newborns-tested-for-more-t…
travel_explore
web search NEUTRAL — By detecting these rare genetic conditions sooner, experts say hundreds of children could benefit from earlier diagnosis and treatment that could help slow progression of the disease or extend their l…
https://www.expressandstar.com/uk-news/newborns-screened-for…
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Claim 13: “More than 90% of those diseases would have been missed by traditional testing methods.”
CORROBORATED
The source 'In pioneering study, gene technology outperforms standard newborn...' reports that of the 120 babies identified with serious conditions, only 10 were identified by standard screening. This means 110/120 (approximately 91.6%) would have been missed, corroborating the 'more than 90%' claim.
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web search NEUTRAL — Among the first 4,000 newborns enrolled in the GUARDIAN study, genome sequencing identified 120 babies (3%) with serious health conditions, only 10 of whom were identified with standard newborn screen…
https://sciencesources.eurekalert.org/news-releases/1062238
travel_explore
web search NEUTRAL — ”The GUARDIAN study: Genomic newborn screening (newborn screening) using dried blood spots in 4,000 newborns achieved 99.6% sequencing success.Don't miss the latest news in oncology: stay up to date w…
https://oncodaily.com/blog/wendy-chung-174194
travel_explore
web search NEUTRAL — Currently, over 13,000 newborns have been enrolled in the ongoing GUARDIAN study, which is open to all infants born at NewYork-Presbyterian hospitals in New York City.
https://thepharmadata.com/guardian-study-reveals-benefits-of…
info Disclaimer: This analysis is generated by AI and should be used as a starting point for critical thinking, not as definitive truth. Claims are verified against publicly available sources. Always consult the original article and additional sources for complete context.