Trisha Kuchta, CGC

Licensed genetic counselor specializing in neurodevelopmental genetic conditions seeing patients in Developmental Medicine. Views are my own.

[WIGCA @Wisconsin_GCA]

Just a few more days to register for the 2026 Annual Education Conference!

Register by scanning the QR code or clicking this link: https://t.co/c5Rt0FbSt3

[Daniel Calame, MD, PhD @DanielGCalame]

Incomplete penetrance in severe monogenic neurodevelopmental disorders is rare but probably under-appreciated. Happy to share our new preprint describing a surprising example of this phenomenon:

https://t.co/mDvqqyHNYM

[Genetics in Medicine @GIMJournal]

Clinical risk factors like low birthweight, prematurity, and prolonged NICU stay can help identify infants most likely to benefit from genetic testing, streamlining diagnosis and care. https://t.co/tmO0BHfZ6Y #GIMO #NICU #Genome #GeneticTesting #RiskFactors #CriticalIllness

[Samuel Hume @DrSamuelBHume]

3. Trikafta wins the Lasker–DeBakey prize 'for a major advance that improves the lives of many thousands of people'

When it was first described, life expectancy in cystic fibrosis was about 7 months

Trikafta was approved in 2019 — and life expectancy is almost normal now

[My Gene Counsel @MyGeneCounsel]

ACMG has officially endorsed the Access to Genetic Counselor Services Act, marking an important step forward for the genetics community & efforts to expand patient access to genetic counseling. Here’s to moving the field forward together! #precisionmedicine #genechat #ACMG #NSGC

[American Academy of Pediatrics @AmerAcadPeds]

The Senate just passed a budget bill that would gut Medicaid and SNAP — programs millions of kids rely on for care and nutrition. Cuts this big threaten every child’s health. Pediatricians urge the House to reject this bill and protect kids’ care. https://t.co/0KUHaHp6QL

[Trisha Kuchta, CGC @GC_Trisha]

“The AAP recommends exome/genome sequencing as a first-tier test for GDD/ID in most circumstances because of superior diagnostic yield and higher cost-effectiveness if pursued earlier in the diagnostic process.” https://t.co/89H9BpJisn

[NFXF @NFXFoundation]

‼️ REMINDER: Research Study for Parents/Guardians

🧬Have you received genetic counseling for your child’s Fragile X syndrome diagnosis in the past 5 years? You may be eligible to participate!

⏰Takes ~15 min

📅Survey closes 7/7/25

🔗: https://t.co/mF5WNuAUdG

[National Organization for Rare Disorders (NORD) @RareDiseases]

Each year, thousands of newborns with #RareDiseases are identified via #NewbornScreening. This early detection can be lifesaving. The elimination of the Advisory Committee on Heritable Disorders in Newborns & Children risks the preventable death and suffering of children with treatable disorders.

Read our full statement from #NORD CEO Pamela Gavin: https://t.co/wJd6nV63L7

[Genetic Counselors @GeneticCouns]

Today, on Autism Awareness Day, we celebrate the many ways autism shapes individuals, families, and communities. We join the autism community in highlighting the unique perspectives, strengths, and connections that enrich us all.

[Trisha Kuchta, CGC @GC_Trisha]

#Genechat 👀

[Anne Wojcicki @annewoj23]

The 23andMe Special Committee released news today indicating their plan to take the company through the Chapter 11 process.   While I am disappointed that we have come to this conclusion and my bid was rejected, I am supportive of the company and I intend to be a bidder.   I have resigned as CEO of the company so I can be in the best position to pursue the company as an independent bidder. 

Nineteen years ago, when I co-founded 23andMe, the direct to consumer industry did not exist and most people had no idea why they would ever want to see their genome.   So much has changed.   There is now a thriving direct to consumer industry and over 15 million people are now 23andMe customers.   These customers are continuing to learn about their family relationships and how to optimize their health thanks to the incredible team of individuals at 23andMe who innovate and help customers gain insights from their genetic information.

What made so many of our innovations possible were the 85% of our customers who opted in to research.  Thanks to them they have empowered an incredible platform for discovery.  You enabled our pursuit into novel drug discovery and our 50 programs with GSK.   In addition, over 250 publications have come out because of you and we have meaningfully impacted the research world.   Thank you.

We have had many successes but I equally take accountability for the challenges we have today. There is no doubt that the challenges faced by 23andMe through an evolving business model have been real, but my belief in the company and its future is unwavering.  Consumers are rising up and asking for more control over their health and want greater knowledge about how to be healthy and why they may have health issues. We fought for consumers to have direct access to their information and for them to have choice and transparency with respect to their personal data.   As I think about the future, I will continue to tirelessly advocate for customers to have choice and transparency with respect to their personal data, regardless of platform.

Since 2006, we have built an incredible consumer brand with one of the world's largest and most diverse genetic communities. Our foundation was the trust and respect of our customers, and they were always the guiding light on how we made decisions. If I am fortunate enough to secure the company’s assets through the restructuring process, I remain committed to our long-term vision of being a global leader in genetics and establishing genetics as a fundamental part of healthcare ecosystems worldwide.

[Baylor Genetics @BaylorGenetics]

Down syndrome (DS) is the most common chromosomal condition, affecting ~5,000 babies each year in the U.S. Let's stand with individuals with DS, families, & advocates. Let’s raise awareness & support a future where everyone’s potential shines.

Learn more: https://t.co/RqDJkpPyGh

[Trisha Kuchta, CGC @GC_Trisha]

“[genetic testing] is a diagnostic tool that doesn’t belong to us” - Powerful statement by Mira Irons at the morning session “Clinical Genetics - Where Are We Headed?” #ACMGMtg25 #Genechat

[Trisha Kuchta, CGC @GC_Trisha]

Headed to #ACMGmtg25 and I’m excited to talk at the public health SIG forum later today!

[Genetics in Medicine @GIMJournal]

Looking for updates on #NoonanSyndrome? A study of 172 individuals with NS reveals improved developmental outcomes, phenotypic spectrum insights, and high healthcare utilization https://t.co/rM3TvbDxvL #RASopathies

[Genetics in Medicine @GIMJournal]

Expanding the TAOK1/TAOK2 story: TAOK1 variants linked to neurodevelopmental disorders, macrocephaly, & hypotonia, while TAOK2 brings autism, obesity. 30+ novel variants ID’d—highlighting the kinase domain as a hotspot https://t.co/zOxhZoDbdR @NourElkhateeb14 @MeenaBalasubra5

[IU School of Medicine @IUMedSchool]

After a decade of unanswered questions, IU School of Medicine’s Rare Disease Clinic identified an ultrarare genetic disorder for an Indianapolis girl, giving her family long-awaited answers: https://t.co/PbWOoTAxvN #RareDiseaseDay

[Trisha Kuchta, CGC @GC_Trisha]

As an outpatient pediatric GC this struck me: “only 14% of infants who received conventional care were even offered ES by the age of 15 months, suggesting that access to a PrGD further worsens upon discharge from the NICU, and only about half of these infants (6.1%) underwent ES”

[AJHG @AJHGNews]

📢New today!
📰SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns
🧑‍🤝‍🧑 @bamshadmike & colleagues
@GeneDx @GeisingerHealth
https://t.co/LvYiBkWNAc

[nature @Nature]

A two-and-a-half-year-old girl shows no signs of a rare genetic disorder, after becoming the first person to be treated for the motor-neuron condition while in the womb.

https://t.co/gNlSXnkFGn

[Trisha Kuchta, CGC @GC_Trisha]

#Genechat

[Genetics in Medicine @GIMJournal]

UCLA's NDD multidisciplinary clinic achieved >40% diagnostic yield through genetic testing; all diagnosed patients had management changes, including specialty referrals, cascade testing, and medication adjustments https://t.co/lOqx81H7iV @besterman_a