Alzheimer’s Disease
Alzheimer’s disease (“AD”) is the most common form of dementia, and afflicts 5.3 million Americans, 11% of Americans aged 65 and older, and 32% of those age 85 and older. By 2050, the number affected is projected to reach 13.8 million. In 2022, the total national cost of caring for people with Alzheimer’s and other dementias is projected to reach $321 billion. There is no disease-modifying therapeutic for AD, and no absolute means of prevention. Age, genetics, and family history are the primary risk factors; however, lifestyle changes such as exercise, smoking cessation, and the management of hypertension and diabetes all help to reduce the risk of cognitive decline and dementia. Current diagnostics include cognitive testing, in vivo amyloid PET imaging of the brain, and investigational in vitro diagnostic measurements in CSF.
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The US FDA recently approved Aduhelm™, an amyloid beta-directed antibody, under accelerated approval for the treatment of AD based on reduction in amyloid plaques observed in patients treated with Aduhelm. Treatment with ADUHELM is initiated in patients with mild cognitive impairment or mild dementia stage of disease.
An analysis of the preparedness of the U.S. healthcare system for the introduction of an AD disease modifying therapy by the RAND Corporation found that the system capacity is inadequate to handle the projected caseload and predicts that patients may have to wait for over a year and a half for access to treatment subsequent to FDA approval and coverage by Medicare.4 One of the primary bottlenecks is confirmation of cerebral amyloid status; a positive status is required for treatment. Access to PET scans could become a rate-limiting factor, but one that is addressable by first screening with a blood test that can eliminate patients who have a high likelihood of low cerebral amyloid and therefore not indicated for treatment. Potentially, up to 50 million people aged 65 and older would need screening and evaluation for possible treatment.
The availability of Aduhelm also increases the need for routine screening and testing along the Alzheimer's continuum. There is a need for better screening and diagnostic tests for Alzheimer's disease to ensure that patients in early stages of the disease are identified in a timely manner. Additionally, physicians will need a low cost and accessible test to track change in amyloid status and monitor other disease biomarkers for therapeutic effectiveness. AD-targeted blood biomarker panels can address many of these needs.
Alzheimer’s Disease
Alzheimer’s disease (“AD”) is the most common form of dementia, and afflicts 5.3 million Americans, 11% of Americans age 65 and older, and 32% of those age 85 and older. By 2050, the number affected is projected to reach 13.8 million. In 2020, the total national cost of caring for people with Alzheimer’s and other dementias is projected to reach $305 billion. There is no disease-modifying therapeutic for AD, and no absolute means of prevention. Age, genetics, and family history are the primary risk factors; however, lifestyle changes such as exercise, smoking cessation, and the management of hypertension and diabetes all help to reduce the risk of cognitive decline and dementia. Current diagnostics include cognitive testing, in vivo amyloid PET imaging of the brain, and investigational in vitro diagnostic measurements in CSF.
Resources:
The US FDA recently approved Aduhelm™, an amyloid beta-directed antibody, under accelerated approval for the treatment of AD based on reduction in amyloid plaques observed in patients treated with Aduhelm. Treatment with ADUHELM is initiated in patients with mild cognitive impairment or mild dementia stage of disease.
An analysis of the preparedness of the U.S. healthcare system for the introduction of an AD disease modifying therapy by the RAND Corporation found that the system capacity is inadequate to handle the projected caseload and predicts that patients may have to wait for over a year and a half for access to treatment subsequent to FDA approval and coverage by Medicare.4 One of the primary bottlenecks is confirmation of cerebral amyloid status; a positive status is required for treatment. Access to PET scans could become a rate-limiting factor, but one that is addressable by first screening with a blood test that can eliminate patients who have a high likelihood of low cerebral amyloid and therefore not indicated for treatment. Potentially, up to 50 million people aged 65 and older would need screening and evaluation for possible treatment.
The availability of Aduhelm also increases the need for routine screening and testing along the Alzheimer's continuum. There is a need for better screening and diagnostic tests for Alzheimer's disease to ensure that patients in early stages of the disease are identified in a timely manner. Additionally, physicians will need a low cost and accessible test to track change in amyloid status and monitor other disease biomarkers for therapeutic effectiveness. AD-targeted blood biomarker panels can address many of these needs.
Multiple Sclerosis
Multiple sclerosis (MS) is a neurodegenerative disease caused by damage to myelin, nerve fibers, and neurons in the brain and spinal cord, causing a variety of symptoms impacting the mind, body, and senses, including numbness, tingling or burning in the limbs, blurred vision, changes is speech and hearing impairment, to name a few. It is the most widespread disabling neurological condition of young adults around the world. You can develop MS at any age, but most people receive diagnoses between the ages of 20 and 50. A study published in 2019 in the journal Neurology estimated that nearly 1 million people in the US were living with MS in 2017, nearly double previous estimates. The incidence is highest in the northern states (north of the 37th parallel), and people of norther European descent have the highest risk of developing MS regardless of where they live. MS is two to three times more common in women than in men. Diagnosis includes a review of a patient’s medical history, MRI, spinal fluid tests, blood tests, and EEG. Thankfully, there are nearly a dozen approved disease-modifying medications for MS approved by the FDA, and the medical challenge has shifted from simply diagnosing the disease to managing disease variants across patients and the time course of the disease.
Multiple Sclerosis
Multiple sclerosis (MS) is a neurodegenerative disease caused by damage to myelin, nerve fibers, and neurons in the brain and spinal cord, causing a variety of symptoms impacting the mind, body, and senses, including numbness, tingling or burning in the limbs, blurred vision, changes is speech and hearing impairment, to name a few. It is the most widespread disabling neurological condition of young adults around the world. You can develop MS at any age, but most people receive diagnoses between the ages of 20 and 50. A study published in 2019 in the journal Neurology estimated that nearly 1 million people in the US were living with MS in 2017, nearly double previous estimates. The incidence is highest in the norther states (north of the 37th parallel), and people of norther European descent have the highest risk of developing MS regardless of where they live. MS is two to three times more common in women than in men. Diagnosis includes a review of a patient’s medical history, MRI, spinal fluid tests, blood tests, and EEG. Thankfully, there are nearly a dozen approved disease-modifying medications for MS approved by the FDA, and the medical challenge has shifted from simply diagnosing the disease to managing disease variants across patients and the time course of the disease.
Diabetic Retinopathy
Diabetes affects over 12% of the U.S. population and only 62% receive recommended preventative care.5 An estimated 5.2% of the population has undiagnosed diabetes, or stated differently, 47% of total diabetes cases of adults under 45 years of age are undiagnosed, as are 34% of cases of adults 45 to 64 years old 6. The prevalence of diabetic retinopathy at time of diabetes diagnosis is about 20% 7 , indicating that there are as many as 2.5 million individuals in the U.S. with undiagnosed diabetes-related eye disease. The best way to prevent diabetic retinopathy is to control one’s diabetes. Regular eye exams can help catch early diabetes, especially for patients that do not schedule regular physical exams with a primary care physician. More than moderate diabetic retinopathy may require interventional treatment, either laser-based, through intravitreal injection, or through surgical intervention.
Age-related Macular Degeneration
Age related macular degeneration is less common than diabetic retinopathy but potentially more damaging to the patient since there is no acute lifestyle change that can significantly forestall progression of the disease, and since early detection of conversion to the late, wet form of AMD is critical to initiating interventional treatment. 3% of the population aged 40-59 have some form of AMD, increasing to 14% for 60 and older.8 Although one can assume that persons with late stage or vision-threatening AMD would be properly diagnosed, there is evidence that 25% of patients 60 years old or older have a false negative diagnosis (no AMD diagnosed despite having some form of AMD) when seen by a primary eye care ophthalmologist or optometrist. 9 Early to mid-stage age related macular degeneration (non-exudative or “dry” AMD) is characterized by drusen deposits, retinal pigmentation change and retinal atrophy. The wet form of AMD can be treated with anti-angiogenesis drugs injected into the eye or laser-based therapy.
