Don’t Forget The Highest Risk: Why Polygenic Risk Scores Alone Aren’t Enough

A recent New York Times article drew attention to the utility of a new genetic test called polygenic risk scores (PRS) as a tool for risk stratification and informing treatment to prevent heart attacks. This article highlights the growing role of genetics in healthcare, supported by studies that demonstrate the significant contribution of genetic testing  … Read more

CDC Tier 1 Cost-Effectiveness

Cost-Effectiveness of Population Screening for CDC Tier 1 Conditions

In the rapidly advancing field of genomics, population-based screening for genetic conditions has gained significant attention from large, established healthcare organizations. Nearly ten years ago, the Centers for Disease Control and Prevention (CDC) designated three genetic disorders as Tier 1 for having strong evidence and notable potential to improve public health: Lynch syndrome, familial hypercholesterolemia  … Read more

Unlocking Precision Care at Population Scale in South Carolina

In recent years, genomics has become more than simply sequencing DNA after a diagnosis to learn more about a condition. It is now being utilized as an invaluable tool for making informed, proactive care decisions. In March, Caroline Brown, MBA, Chief Strategy & External Affairs Officer at the Medical University of South Carolina (MUSC), and  … Read more

On DNA Day, Honoring the Pioneers who Laid the Foundation for Population Genomics

Today, on DNA Day, we celebrate the birth and growth of the genetics field. In 1953, James Watson, Francis Crick, and Rosalind Franklin discovered the DNA’s double helix structure; 50 years later, the first human genome was sequenced in 2003. These groundbreaking achievements cracked open the field of genomics, making the rich data held within  … Read more

Large-Scale Pharmacogenomic

Impact of Large-Scale Pharmacogenomic Testing On Adverse Events

Pharmacogenomics (PGx) continues to be an invaluable tool, critical to optimizing patient care and driving the field of precision medicine. By learning how an individual’s genes impact their health, physicians can make better-informed decisions on care. Several studies have highlighted the benefits of knowing gene variants — thus helping to determine who is and is  … Read more

What is Sequence Once, Query Often?

What is Sequence Once, Query Often™?

The genetics you inherit is the only data set in healthcare that doesn’t change over time, which is why, if you generate high enough quality sequencing data you should be able to use that data again and again both in the care of the patient and for research purposes. Because of this, we deploy a  … Read more

Doctor and patient discussing primary care

The Evolution of Primary Care: Where Does Genomic Screening Fit In?

Primary care was first introduced to the healthcare ecosystem in the early 1960s, and even in its early days, the term had many different definitions and could be applied to many categories of healthcare including the care provided by certain types of clinicians such as nurses, physicians, nurse practitioners, a set of activities or services  … Read more

Year in review

Helix’s 2022 Highlights

As we close the book on 2022, the Helix team was busier than ever in pursuit of our mission to empower every person to improve their life through DNA. Some key highlights: New health system partners: We were excited to share the news of three new health system partnerships this year. In March, we announced  … Read more

Population Health

An Interview with Anthony Aquilina, DO, MBA, EVP & Chief Physician Executive, WellSpan Health

As the Chief Physician Executive of WellSpan Health, Dr. Anthony Aquilina sees meaningful benefits of getting genetic insights into the hands of the providers. WellSpan Health and Helix recently announced a new partnership to create a comprehensive population-scale genetic screening program for Pennsylvanians. We sat down to chat with Dr. Aquilina about the value he  … Read more

familial hypercholesterolemia

Genetic Screening for Familial Hypercholesterolemia

Genetic screening for definite Familial Hypercholesterolemia (FH) looks for pathogenic variants in the LDLR, APOB, or PCSK9 genes, as not everyone with a family history of high cholesterol or heart disease has FH. Health professionals recommend genetic testing when an individual’s relatives have been previously diagnosed with FH or based upon physical examination for symptoms  … Read more

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