Universal cholesterol screening in young children acts as a trigger for cascade screening, where parents (often in their 30s) and grandparents (50s) are also tested. This uncovers and allows for treatment of familial hypercholesterolemia across three generations from a single pediatric test.

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The medical community is slow to adopt advanced preventative tools like genomic sequencing. Change will not come from the top down. Instead, educated and savvy patients demanding these tests from their doctors will be the primary drivers of the necessary revolution in personalized healthcare.

Of the 30+ million Americans with chronic kidney disease (CKD), most are unaware they have it. The greatest societal impact would come not from a new therapy, but from widespread screening and education, as existing drugs and lifestyle changes can help patients in the early stages before they need advanced care.

A major challenge in managing high cholesterol is patient adherence to daily medication for life. New therapies like Inclisiran use mRNA silencing and require only two injections per year, dramatically improving adherence for busy or non-compliant individuals.

Focusing solely on LDL is a mistake. Even individuals with a genetic mutation leading to lifelong low LDL levels can still have cardiovascular events if they have other unmanaged risk factors like metabolic syndrome, obesity, or diabetes, highlighting the need for a comprehensive approach.

The long-term vision for Alt-Pep's diagnostic extends beyond symptomatic patients or those with family histories. The goal is for it to become a routine screening assay, administered annually to the general population to catch the disease at its earliest molecular stages, changing the paradigm from treatment to prevention.

Chronic illnesses like cancer, heart disease, and Alzheimer's typically develop over two decades before symptoms appear. This long "runway" is a massive, underutilized opportunity to identify high-risk individuals and intervene, yet medicine typically focuses on treatment only after a disease is established.

The current healthcare model is backwards. It's more cost-effective to proactively get comprehensive diagnostics like blood work done twice a year than to rely on multiple, expensive doctor visits after symptoms appear. This preventative approach catches diseases earlier and reduces overall system costs.

The silent nature of high cholesterol creates a psychological barrier. Patients who feel perfectly healthy are often unwilling to commit to lifelong treatment, even when their risk is high, leading to preventable cardiovascular events.

The body endogenously produces all the cholesterol necessary for vital functions. Optimal LDL levels are around 40 mg/dL, similar to a newborn's. Higher levels, typically from diet, are not needed and function like a toxin, initiating atherosclerosis.

The development of PCSK9 inhibitors, a powerful class of cholesterol-lowering drugs, originated not from studying disease but from studying healthy people with a genetic mutation causing exceptionally low LDL. This highlights the value of investigating positive outliers in human biology.