Pallister Genetics

One of the most common things I hear from patients is, "I've been waiting months for this appointment."

Unfortunately, that's not unusual. Across the country, genetics clinics are facing staffing shortages, increasing referral volumes, and growing demand for specialized care. Many patients—especially those in rural communities—wait months or even years to access genetic services.

That's why I started Pallister Genetics.

Genetics shouldn't be available only to people who live near major medical centers or who can wait months for an appointment.

Everyone deserves timely access to expert genetic care, no matter where they live.

That's the mission behind Pallister Genetics, and it's what motivates me every day.

New Research Spotlight: Predictive Genetic Testing in ALS 🧬

A recent study in the Journal of Genetic Counseling explores how individuals at risk for ALS navigate the complex decision to pursue predictive genetic testing.

Key insights from UK participants:
✨ Decision-making is deeply personal and emotionally complex
✨ Counseling experiences varied widely—some felt supported, others needed more guidance
✨ Many expressed unmet information needs and uncertainty about next steps
✨ Post-test support is crucial for those living with genetic risk

This research highlights the importance of clear, compassionate genetic counseling that respects individual values, family considerations, and emotional needs. The findings directly informed the development of a new patient decision aid to help families make confident, informed choices.

At Pallister Genetics, we're committed to providing evidence-based, compassionate guidance for families facing inherited neurodegenerative conditions—ensuring that no one navigates these decisions alone.

📄 Read the full article: PMCID: PMC12920051 | PMID: 41714091

May is PWS Awareness Month. Prader-Willi syndrome (PWS) is one of the most well-known examples of genomic imprinting in human disease, where gene expression depends on whether a gene is inherited from the mother or father.

In PWS, genes in the 15q11-q13 region that should be active on the paternal chromosome are missing or not expressed, while the maternal copies are normally silenced for these genes. This disruption leads to a complex neurodevelopmental condition affecting growth, metabolism, and behavior.

Early diagnosis is critical to support feeding, development, and long-term metabolic health, and genetic testing plays a key role in confirming the diagnosis and guiding care.

At Pallister Genetics, we’re committed to helping families and providers understand the “why” behind genetic conditions—so care can be more informed, proactive, and supportive.

Huntington Disease Awareness Month is a time to reflect on where we are—and where we’re headed—in the care of Huntington’s disease.

While there is currently no cure or disease-modifying therapy, there are approved treatments like Deutetrabenazine and Valbenazine that help manage symptoms such as chorea.

At the same time, research is rapidly evolving—from huntingtin-lowering strategies to gene editing approaches like CRISPR-Cas9. While progress has included setbacks, each trial is helping refine the path forward.

If you have questions about Huntington’s disease, genetic testing, or emerging research, Pallister Genetics is here as a resource. 💙

ClinicalTrials GeneticsMatter BrainHealth PrecisionMedicine

Huntington Disease Awareness Month is a time to reflect on where we are—and where we’re headed—in the care of Huntington's disease.

While there is currently no cure or disease-modifying therapy, there are approved treatments like Deutetrabenazine and Valbenazine that help manage symptoms such as chorea.

At the same time, research is rapidly evolving—from huntingtin-lowering strategies to gene editing approaches like CRISPR-Cas9. While progress has included setbacks, each trial is helping refine the path forward.

If you have questions about Huntington’s disease, genetic testing, or emerging research, Pallister Genetics is here as a resource. 💙

Genetic testing guidelines for connective tissue conditions (like Ehlers-Danlos, Marfan, and related disorders) are still fairly conservative—and for good reason. Testing everyone isn’t always helpful.

But emerging research suggests we may be missing important diagnoses if we rely too heavily on classic features alone.

Recent studies have found:
• Up to 26% of patients diagnosed with hypermobile EDS had a different or additional genetic condition identified
• Around 9% of patients had clearly actionable genetic results, with even more showing uncertain but potentially meaningful findings
• In children who didn’t fully meet criteria, ~22% still had a genetic diagnosis

We also know that some genetic conditions can present subtly—or not at all—until something serious happens.

So what does this mean?

👉 Not that everyone needs genetic testing
👉 But that in the right situations, testing can provide clarity, guide care, and sometimes change management entirely

Situations where testing may be worth considering:
• Multiple connective tissue features (even without family history)
• Early or more severe symptoms
• When ruling out other genetic conditions would impact care

This is where genetic counseling matters.
Because the goal isn’t more testing—it’s the right testing, for the right person, at the right time.



References:
1. 2022 ACC/­AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/­American College of Cardiology Joint Committee on Clinical Practice Guidelines.
Journal of the American College of Cardiology. 2022. Isselbacher EM, Preventza O, Hamilton Black Iii J, et al.Guideline
2. Spontaneous Coronary Artery Dissection: Current State of the Science: A Scientific Statement From the American Heart Association.
Circulation. 2018. Hayes SN, Kim ESH, Saw J, et al.Guideline
3. Hypermobile Ehlers-Danlos Syndrome: Diagnostic Challenges and the Role of Genetic Testing.
Genes. 2025. Forghani I, See J, McGonigle WC.New
4. Next-Generation Sequencing and Analysis of Consecutive Patients Referred for Connective Tissue Disorders.
American Journal of Medical Genetics. Part A. 2022. Steinle J, Hossain WA, Veatch OJ, Strom SP, Butler MG.
5. Diagnostic Outcomes for Molecular Genetic Testing in Children With Suspected Ehlers-Danlos Syndrome.
American Journal of Medical Genetics. Part A. 2022. Damseh N, Dupuis L, O'Connor C, et al.
6. Precision Medicine Approaches to Vascular Disease: JACC Focus Seminar 2/­5.
Journal of the American College of Cardiology. 2021. Miller CL, Kontorovich AR, Hao K, et al.
7. Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association.
Circulation. Genomic and Precision Medicine. 2021. Landstrom AP, Kim JJ, Gelb BD, et al.Guideline
8. Heritable Thoracic Aortic Disease Overview.
GeneReviews® [Internet]. 2023. Milewicz DM, Cecchi AC
9. Genetic Complexity of Diagnostically Unresolved Ehlers-Danlos Syndrome.
Journal of Medical Genetics. 2024. Vandersteen AM, Weerakkody RA, Parry DA, et al.
10. The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis.
Genes. 2023. Musleh M, Bull A, Linton E, et al.
11. Cardiovascular Management of Aortopathy in Children: A Scientific Statement From the American Heart Association.
Circulation. 2024. Morris SA, Flyer JN, Yetman AT, et al.Guideline

At Pallister Genetics, we help patients access the right testing in the most cost-effective way. As board-certified genetic counselors, we take the time to gather detailed personal and family histories to determine whether testing is clinically recommended. Why does that matter? Because when testing meets established medical guidelines, it’s often covered by insurance.

The result? Patients get high-quality, personalized care—without overpaying for unnecessary or uncovered testing.

If you’ve been considering genetic testing or were quoted a high out-of-pocket cost, it may be worth a second look. We’re here to help guide you through it.

This is going to be such a fun and meaningful event! We’re excited to be a part of it this year. Supporting individuals and families is at the heart of what we do 💜

TODAY 💙

We’re setting up and getting ready for an amazing afternoon at the Blue Ribbon Event!

🎉 Kids activities
🤝 30+ organizations
💡 Real help for families

If you’ve been thinking about coming—this is your sign.

📍 Gateway Community Center
🕑 2 PM

Bring the kids, grab a bag, and come see what’s here for you 💙

At Pallister Genetics, we often talk about how our genes influence health—but they’re only part of the story. The environment we live in plays a powerful role in how those genes are expressed.

From air quality to water, nutrition, and everyday exposures, our surroundings can shape health outcomes across generations. It’s a meaningful reminder that caring for our planet is also an investment in our long-term health.

This Earth Day, we’re reflecting on the connection between genetics, environment, and prevention—and how small, intentional choices can support both.

Because healthier environments help create healthier futures. 🌱

We’re looking forward to presenting on this topic tomorrow.

Attention MONTANA healthcare providers!
This event is for you 💡👉👉