Sequence MD

05/28/2026

There are four areas where genetics can make a real difference for patients across their lifespan.

#1: Managing Medications and Side Effects
In pharmacogenomics, scientists study how our genetic makeup affects our response to medication. It is a rapidly growing field, with ongoing research into the genetic basis of drug response in various populations. Essentially, researchers have found that your genes influence how you respond to different drugs. Genetic variations affect the way you absorb, distribute, metabolize, and eliminate medicine from your body. These variations impact medication effectiveness and safety.

By collaborating with a geneticist to obtain pharmacogenomic information, healthcare providers can tailor the dosage and choice of medication to your DNA. This can help to optimize treatment plans and overall outcomes.

To learn where adult genetics matters most, read our latest blog post: https://sequencemd.com/4-areas-where-genetics-matters-most-in-primary-care/

05/27/2026

Cardiovascular disease is the #1 cause of death around the world. In the US, 1 of every 4 deaths is attributable to cardiovascular disease, and sudden cardiac arrest is the biggest cause of natural death.

While lifestyle, environment and behavior can influence the development of cardiovascular disease, genetics also plays a role. From birth through adulthood, your genes impact every aspect of how the heart forms and functions. A variation in a single gene can increase the risk of heart disease, and understanding these variations can be life-saving. By looking at a patient’s genes, doctors may be able to treat disorders in a more tailored and possibly aggressive manner. In other cases, having the right information can allow for early action that prevents disease from developing or advancing.

To learn more, read our blog post: https://sequencemd.com/understanding-cardiovascular-disease-through-genetics/

Have questions about genetic testing? Contact us at [email protected].

# InheritedCardiacArrhythmias

Cardiovascular disease is the number one cause of death around the world. In the US, 1 of every 4 deaths is attributable to cardiovascular disease, and sudden cardiac arrest is the biggest cause of natural death. While lifestyle, environment and behavior can influence the development of cardiovascul...

05/11/2026

Did you know up to 40% of adult epilepsy cases may have a genetic cause? For people whose seizures are hard to control, a genetic diagnosis can change everything — from which medications work best to whether a specialized diet or clinical trial could help.

If epilepsy runs in your family, started early or hasn't responded well to treatment, it may be time to ask about a genetic evaluation.

Read our latest blog to learn what that process looks like: https://sequencemd.com/adult-genetic-epilepsy-the-value-of-a-diagnosis/

04/06/2026

Muscle weakness is common. But when it follows certain patterns — affecting both sides of the body symmetrically, progressing slowly over years, appearing before age 50 without a clear cause — it may have a genetic origin.

In our latest blog post, we break down how neurogenetic conditions affect different parts of the nervous system and muscle, what red flags to look for and why early whole genome sequencing can shorten the diagnostic odyssey dramatically for patients who've been searching for answers.

If you’re a clinician seeing patients with unexplained weakness or a patient who’s been told “we just don't know,” this is worth a read: https://sequencemd.com/when-muscle-weakness-has-a-neurogenetic-cause/

03/30/2026

Happy National Doctors’ Day to the physicians who never stop asking why.

To the primary care doctors who trust their instincts when something doesn’t add up. To the neurologists, cardiologists and oncologists who push further when answers are elusive. To every physician who sits with a family navigating the unknown and refuses to give up.

At SequenceMD, we have the privilege of working with you every day — partnering to unravel unresolved symptoms, undiagnosed conditions, and complex genetic and metabolic diagnoses for patients of all ages.

Your dedication is what drives better outcomes. Today, we thank you for the work that changes everything for families searching for answers.

03/16/2026

Polygenic Risk Scoring (PRS) looks at hundreds to thousands of genetic variants to help predict your susceptibility to complex diseases like cardiovascular disease, Alzheimer’s and certain cancers. Unlike single-gene testing, PRS paints a broader picture of risk that exists from the moment you’re born. But here’s the key: genetic risk is just one layer. Family history, lifestyle and clinical data all shape your overall picture — and that’s exactly how we use it at SequenceMD.

Knowing your risk early means you can act early. Read our latest blog post to learn how PRS works, what it can (and can’t) tell you and how it fits into a complete prevention plan: https://sequencemd.com/polygenic-risk-scoring-learn-about-your-disease-risk/

03/06/2026

Understanding your genetics changes everything. SequenceMD evaluation and counseling services turn that knowledge into action — with early diagnosis, proactive health management and precision care across a full range of specialties:

• Hereditary Cancer Risks
• Cardiogenetics
• Disease Risk
• Ehlers-Danlos Syndrome (EDS)
• Family Planning
• Intellectual & Developmental Disabilities (IDD)
• Nephrogenetics
• Neurogenetics
• Pediatric Genetics

Learn more at sequencemd.com

-DanlosSyndrome

02/28/2026

Every year on Rare Disease Day (that's today!), we’re reminded that behind every rare condition is a person still searching for answers. For so many families, the road to a diagnosis is long ... years of appointments, second opinions and hearing “we’re not sure.” It can mean knowing something isn’t right — but not having the language or validation to explain or deal with it. That’s why this day matters. And that’s why we stand up.

Standing up for the undiagnosed is about more than awareness. It’s about listening when patients speak up. It’s about encouraging loved ones to keep asking questions. It’s about advocating for testing, expertise and deeper answers when “wait and see” just isn’t enough.

At SequenceMD, we work alongside patients, families and providers to help uncover those answers through comprehensive genetic evaluations and personalized support. Because getting a diagnosis can change everything — it can open doors to targeted care, connect families to resources and finally replace uncertainty with understanding. Learn about moving past misdiagnosis here: https://sequencemd.com/moving-past-misdiagnosis-the-value-of-a-genetic-evaluation/

If you’re still searching, don’t give up. Your story matters. Your questions matter. And you deserve answers.
This Rare Disease Day, let’s stand up — together — for the undiagnosed.

02/27/2026

The zebra is the symbol of rare disease patients. Traditionally, doctors are taught when they “hear hoofbeats,” expect a horse, not a zebra. But in the rare disease community, one in 10 Americans is a zebra. And Rare Disease Day (Feb. 28) is all about shining a spotlight on them.

At SequenceMD, we’re committed to finding and supporting the zebras. Through comprehensive genetic evaluations and counseling, we help families gain diagnostic clarity, uncover answers and improve outcomes. Read more about pediatric genetics here: https://sequencemd.com/pediatric-genetics/

02/26/2026

This Rare Disease Day on February 28, stand with the rare disease community. Whether you’re a patient, parent or provider, advocating for genetic answers can lead to better care and stronger support networks.

At SequenceMD, we help families pursue diagnosis clarity through comprehensive genetic evaluations and personalized counseling. Because when you have answers, you can make informed decisions, access the right specialists and plan for the future with confidence. Your voice matters. And so do answers. Read about the four areas where genetics matters most in primary care: https://sequencemd.com/4-areas-where-genetics-matters-most-in-primary-care/