Clinical Whole Genome Sequencing - by Eric Topol

I remember a day when genetic testing was very expensive and only used for rare diseases.

Times and our ability have changed diagnosis and treatment for many diseases previously thought to not be worth genetic analysis.

So much attention has been placed on the cost of whole genome sequencing (WGS) over the years, from about $300 million for the first one in 2000 (some estimates are as high as $3 billion), to now starting to approach $100. That’s a long-sought and remarkable reduction in cost.  

But what is equally impressive is that a team at the University of Washington, led by Danny Miller, set a world record in September 2022, reducing the time from the sample (at the birth of a baby) to interpretation to 3 hours! That diagnosis (of lacking the pathogenic gene variant of concern) in a newborn was facilitated by knowledge of familial risk. Nevertheless, that acceleration of sequencing and analysis comes in the wake of the Stanford team, led by Euan Ashley, performing WGS in 12 people ranging from 3 months to 57 years, in a critical care setting, in as little as 7 hours and 18 minutes.

This acceleration of gene technology almost allows genetic testing to be available at the bedside for a cost approaching a complete blood count.

At times the advances are announced first in lay publications such as the NY Times.

Time course from presentation to diagnosis

At Scripps Research, our SRTI team works closely with Rady Children’s Institute for Genomic Medicine, the group that has pioneered WGS in sick newborns who do not have a diagnosis, accomplishing this from sample to interpretation and management recommendations all within 13 hours, using multiple AI tools (labeled 1-3 below) to expedite the readout and care of the baby.

An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases

The reduction in cost and time for whole genome sequencing is historic and one of the most important advances that has occurred in life science in recent years. With the increasing use of AI tools to make the variant calling and interpretation more accurate and rapid, along with contextualizing the medical literature for a molecular diagnosis and possible treatment, this could become someday an exemplar, beyond the prediction of protein folding from the amino acid sequence (AlphaFold), for AI’s contribution to biomedicine. Hopefully, someday we will harness its value to advance individualized medicine.

Clinical Whole Genome Sequencing - by Eric Topol

Why Some People Might Never Get COVID

8 prior authorization terms that drive every doctor crazy | American Medical Association

Prior authorization

This is a health plan cost-control process that restricts patient access to treatments, drugs, and services. This process requires physicians to obtain health plan approval before delivery of the prescribed treatment, test, or medical service in order to qualify for payment.

According to an AMA survey (PDF) of 1,004 practicing physicians, more than nine in 10 respondents said prior authorization had a significant or somewhat negative clinical impact, with 34% reporting that PA had led to a serious adverse event such as a death, hospitalization, disability or permanent bodily damage, or other life-threatening events for a patient in their care. 

The vast majority of physicians (88%) described the administrative burden associated with PA as “high or extremely high,” and physician practices complete an average of 41 prior authorizations per physician per week. 

Utilization management

Prior authorization is just one subset of the larger field of insurer practices called utilization management (UM), which the Institute of Medicine—now known as the National Academy of Medicine—defined way back in 1989 as “a set of techniques used by or on behalf of purchasers of health care benefits to manage health care costs by influencing patient care decision-making through case-by-case assessments of the appropriateness of care prior to its provision.” That has a familiar ring to it.

The AMA is fighting for the passage of a bill that would require Medicare Advantage plans to implement prior-authorization reforms, easing the burden on physicians and their practice staff.

Step therapy

Another utilization-management technique that can drive doctors crazy is step therapy, sometimes called the fail-first requirement. Under such a policy, payers will require that patients first try and fail lower-cost tests, drugs or other treatments before moving on to higher-cost options, sometimes in cases when the patient has already unsuccessfully tried the therapy under a previous insurance plan.

Find out what doctors wish patients knew about prior authorization.

Medical necessity

Everyone agrees that patients should not get a drug, test or surgery unless it is medically needed. The reason why this common utilization-management term drives doctors crazy is that it seems as though each payer has its own definition of medical necessity, which makes navigating the process highly frustrating for physicians who just want their patients to get the care they deserve.

The AMA believes that what constitutes medically appropriate treatment should be based on clinical guidelines developed by the appropriate national medical specialty society and be consistent regardless of a patient’s insurer. There should be a standard medical necessity definition so that all insurers in a state are playing by the same rules and everyone understands what those rules are.

Learn more about what the AMA’s research has uncovered about prior authorization and share your story to help guide advocacy efforts to fix prior auth.

Peer-to-peer review

This is a process in which an ordering physician discusses the need for a procedure or drug with another physician who works for the payer in order to obtain a prior-authorization approval or appeal a previously denied PA. If properly implemented, the process can be helpful, as it affords the physician the opportunity to speak with another clinician. What drives doctors crazy is that it usually comes after days or even weeks of bureaucratic wrangling, and the health plan's “peer” often is from a completely different specialty and knows nothing about the disease or treatment in question.

The AMA says peer-to-peer review should be available at any point following an adverse PA determination, and that the peer to whom the physician speaks should be a genuine peer—a doctor practicing the same specialty and subspecialty as the ordering physician.

Learn about a gastroenterologist so sick of the runaround from payers that he has taken his prior auth pains to Twitter.

Related Coverage

House voice vote sets U.S. on the path to fix prior authorization

Standard pharmacy electronic prior authorization

Also called ePA, this capability automates prior authorization by integrating it into the physician’s electronic prescribing workflow and can make the PA process faster, consistent across insurers, and more efficient. Unfortunately, physicians interested in using this technology are often stymied, as ePA is far from the norm.

Too often, physician practices and health care organizations are stuck navigating telephone trees, waiting on hold, or feeding forms into their fax machines. Even when health plans offer electronic prior-authorization options, they often involve proprietary portals that require workflow disruption to exit the EHR, log into the insurer’s unique website, and time-consuming reentry of the patient and clinical data—not the streamlined standard ePA process embedded within the EHR. Astoundingly, the Cleveland Clinic has racked up a $10 million annual tally just to push their PA requests through the process.

Learn more about how ePA technology that integrates with practices' current electronic prescribing workflows can improve the drug prior authorization process, just one of the AMA’s PA practice resources.

Gold carding

This is a process under which a payer exempts physicians who consistently order or prescribe treatments and drugs in accordance with evidence-based guidelines, or have high approval rates from PA requirements. So if you’re not an outlier physician—if your prior-authorization requests are approved like clockwork—at, let’s say, a 90% rate—then payers should be happy to grant you that proverbial gold card, allowing you to get your patients quick access to the care towards which they have been paying their premiums.

While Texas has enacted prior-authorization “gold card” legislation and a bill in Congress would advance the idea in Medicare Advantage, such programs are not prevalent in health care today, and it drives doctors crazy that such a commonsense concept—one that would reduce PA burdens for both practices and insurers—hasn’t yet taken hold.  

The essential idea was outlined in a set of principles put forth (PDF) by the AMA and 16 other physician, patient and health care organizations: “Health plans should restrict utilization management programs to ‘outlier’ providers whose prescribing or ordering patterns differ significantly from their peers after adjusting for patient mix and other relevant factors.”

Moreover, a consensus statement (PDF) released by the AMA and national associations representing both providers and insurers encourages just these sorts of programs to lower the overall volume of PAs by selectively applying these requirements.

In 2018, payers agreed to rein in prior auth. Learn why the clock is still ticking.

The not-so-hidden cost of prior authorizations from the Cleveland Clinic

8 prior authorization terms that drive every doctor crazy | American Medical Association

Narrative Medicine: Every Patient Has a Story |

Every patient has a story that goes beyond the symptoms they bring into the doctor’s office.

Those stories can illuminate how a person became ill, the tipping point that compelled them to seek help, and, perhaps most importantly, the social challenges they face in getting better. Stories can offer the kind of contextual richness that promotes and nourishes empathy, prompting a provider to switch from asking “How can I treat this disease?” to “How can I help my patient?” The difference may seem subtle at first, but knowing how to get patients to share their stories can be transformative in improving patient care, say proponents of this approach called “narrative medicine.”

Another classification for this is Social Determinants of Health (SDOH)

Social determinants of health

These include underlying communitywide social, economic, political, cultural, and physical conditions people experience when they are born and as they grow, live, work and age. These experiences shape individual material and psychosocial circumstances as well as biological and behavioral factors. The term commonly refers to defined communities or regions, which are typically defined by geography. All patients experience social determinants of health.  

Structural determinants

These include the climate, socioeconomic-political context—for example, societal norms and macroeconomic, social, and health policies—and the structural mechanisms that shape social hierarchy and gradients, including economics income, access to food, power, class, racism, sexism, and exclusion. It commonly refers to cities, states, nations, or the world and typically is defined by political jurisdictions, cultural boundaries, or economic relationships. 

Community Health

A multisector, multidisciplinary collaborative enterprise that uses public health science, evidence-based strategies, and other approaches to engage and work with communities in a culturally appropriate manner to optimize the health, quality of life, and social determinants of health for all people who live, work or are otherwise active in defined communities.

Public Health

Public Health is often determined by factors outside the health care system and is committed to addressing the social determinants of health to improve health outcomes for all Americans.

Narrative Medicine: Every Patient Has a Story | AAMC

    

Prior Authorization Angst, Another Reason for Doctor burnout.

Consult this handy glossary to better grasp the frustrating cost-control practice and learn how the AMA is leading the charge to fix prior auth.

Listen to this Article

Any patient who has been to their physician in the past decade has heard, (We'll have to get authorization for a referral, treatment, or medical equipment.  The time involved or this is not insignificant and adds expense for additional personnel. Some medical practices may employ one or two full-time employees to perform this task.

Amongst other tasks contributing to physician burnout is the electronic health record.   

What is the leading cause of physician burnout?

The healthcare environment—with its packed work days, demanding pace, time pressures, and emotional intensity—can put physicians and other clinicians at high risk for burnout. Burnout is a long-term stress reaction marked by emotional exhaustion, depersonalization, and a lack of sense of personal accomplishment.

8 prior authorization terms that drive every doctor crazy | American Medical Association:  

Among physician specialties, the biggest declines were seen within internal medicine, family practice, and emergency medicine fields. (Getty)

Nearly 334,000 physicians, nurse practitioners, physician assistants, and other clinicians left the workforce in 2021 due to retirement, burnout, and pandemic-related stressors, according to new data.

Physicians experienced the largest loss, with 117,000 professionals leaving the workforce in 2021, followed by nurse practitioners, with 53,295 departures, and physician assistants, with 22,704 departures. About 22,000 physical therapists also left the healthcare workforce and 15,500 licensed clinical social workers, according to a report from commercial intelligence company Definitive Healthcare.

Among physician specialties, the biggest declines were seen within internal medicine, family practice, and emergency medicine fields. "Like clinicians and registered nurses, providers in these three specialties frequently worked on the frontlines during the pandemic, risking exposure and facing many of the same pressures and stressors as described earlier," the report authors wrote.

In 2021, 15,000 internal medicine doctors left the workforce, followed by 13,015 providers who left family practice and 10,874 who left clinical psychology.

Definitive Healthcare's report leverages data from more than 2 million physicians and nurses, 9,200 hospitals and IDNs, and 128,000 physician groups.

Among high levels of burnout, many healthcare providers are nearing retirement age, the report noted.

 According to Definitive Healthcare data, many physicians across several healthcare specialties are on the verge of retirement or will be near that age soon. Research from the American Association of Medical Colleges (AAMC) found that nearly 45% of doctors are older than age 55, and more than 40% of active physicians will be 65 or older in the next ten years. The average age of a nurse is 57, the report said.

Physicians leaving the workforce of patient care

Retirement age, disability, burnout, including pandemic stress, new non-clinical role, loss of license due to malfeasance, malpractice.

Plan B

Plan B is about mixing boxes, not stacking them. Instead of a sequence of education, work and retirement, the approach means blending the three during your life and creating a portfolio career. In addition, if your interest is some kind of alternative career using your skills as an experienced physician, then you need to plan sufficiently ahead of time, with areas of overlap and transition, instead of just jumping off the cliff once you decide to shove the white coat.

Truveta releases live dashboard with healthcare data from 25 health system partners

The age of AI is here,  and how it will improve your health.  The data is collected after personal information is removed from it.

Health data startup Truveta has released a real-time searchable dashboard featuring deidentified medical records from more than 70 million patients from its 25 health system partners.

Truveta Studio has data covering 16 percent of the healthcare system that researchers can use to study patient care and outcomes by condition, drug or medical device. The data, integrated via artificial intelligence-powered natural language processing, is updated daily.

"For researchers, this is really exciting," said Ari Robicsek, MD, chief medical analytics officer and senior vice president of research at Renton, Wash.-based Providence, in a Nov. 2 Truveta news release.

The data spans a patient's longitudinal history, covering diagnoses, vital signs, lab tests, clinical notes, procedures, medications and vaccinations. Gaps are filled with insurance claim information, while daily mortality and social drivers of health data is imported from LexisNexis.

"Researchers often spend countless hours attempting to stratify and define the patient populations they are seeking to study before they can even begin their analysis," stated Eric Eskioglu, MD, executive vice president and chief medical and scientific officer at Winston-Salem, N.C.-based Novant Health. "Truveta not only ensures consistency and transparency across different clinical concepts and outcomes, but also fundamentally lower the cost and increase the speed of research, enabling scientists to get to insights faster for saving more lives."

Truveta's health system partners include:

• Advocate Aurora Health (Downers Grove, Ill., and Milwaukee)
• AdventHealth (Altamonte Springs, Fla.)
• Baptist Health (Jacksonville, Fla.)
• Baylor Scott & White Health (Dallas)
• Bon Secours Mercy Health (Cincinnati)
• Centura Health (Centennial, Colo.)
• CommonSpirit Health (Chicago)
• Hawaii Pacific Health (Honolulu)
• Henry Ford Health (Detroit)
• HonorHealth (Scottsdale, Ariz.)
• MedStar Health (Columbia, Md.)
• Memorial Hermann Health System (Houston)
• MetroHealth (Cleveland)
• Novant Health (Winston-Salem, N.C.)
• Northwell Health (New Hyde Park, N.Y.)
• Ochsner Health (New Orleans)
• Providence (Renton, Wash.)
• Saint Luke’s Health System (Kansas City, Mo.) 
• Sentara Healthcare (Norfolk, Va.)
• Tenet Healthcare (Dallas)
• Texas Health Resources (Arlington)
• Trinity Health (Livonia, Mich.)
• UnityPoint Health (Des Moines, Iowa)
• Virtua Health (Marlton, N.J.)
• WellSpan Health (York, Pa.)

Truveta releases live dashboard with healthcare data from 25 health system partners

The Effects of the Use of Patient-Accessible Electronic Health Record Portals on Cancer Survivors’ Health Outcomes: Cross-sectional Survey Study

From the Journal of Medical Internet Research

Located in Toronto Canada JMIR provides online access to many medical journals. Articles can be submitted directly to JMIR for review and/or publication.  It is linked to many prestigious medical journals such as the NEJM

JMIR Research Department

Background:

In the past decade, patient-accessible electronic health record (PAEHR) systems have emerged as an important tool for health management both at the hospital level and individual level. However, little is known about the effects of PAEHR portals on the survivorship of patients with chronic health conditions (eg, cancer).

Objective:

This study aims to investigate the effects of the use of PAEHR portals on cancer survivors’ health outcomes and to examine the mediation pathways through patient-centered communication (PCC) and health self-efficacy.

Methods:

Data for this study were derived from the Health Information National Trends Survey 

(HINTS 5, Cycle 4) collected from February 2020 to June 2020. This study only involved respondents who reported having been diagnosed with cancer (N=626). Descriptive analyses were performed, and the mediation models were tested using Model 6 from the SPSS macro PROCESS. Statistically significant relationships among PAEHR portal use, PCC, health self-efficacy, and physical and psychological health were examined using bootstrapping procedures. In this study, we referred to the regression coefficients generated by min-max normalization as percentage coefficients (bp). The 95% bootstrapped CIs were used with 10,000 resamplings.

Results:

No positive direct associations between PAEHR portal use and cancer survivors’ health outcomes were found. The results supported the indirect relationship between PAEHR portal use and cancer survivors’ psychological health via (1) PCC (bp=0.029; β=.023, 95% CI .009-.054), and (2) PCC and health self-efficacy in sequence (bp=0.006; β=.005, 95% CI .002-.014). Besides, the indirect association between PAEHR portal use and cancer survivors’ physical health (bp=0.006; β=.004, 95% CI .002-.018) via sequential mediators of PCC and health self-efficacy was also statistically acknowledged.

Conclusions:

This study offers empirical evidence about the significant role of PAEHR portals in delivering PCC, improving health self-efficacy, and ultimately contributing to cancer survivors’ physical and psychological health.

J Med Internet Res 2022;24(10):e39614

Ref:   doi:10.2196/39614

Journal of Medical Internet Research - The Effects of the Use of Patient-Accessible Electronic Health Record Portals on Cancer Survivors’ Health Outcomes: Cross-sectional Survey Study: 

The Federal Telehealth Extension and Evaluation Act: What You Need to Know |

We’re still feeling the impacts of coronavirus, especially in older and more vulnerable populations, which is why these telehealth services must be extended.”

- U.S. Senator Catherine Cortez Masto

On February 7, 2022, Senators Catherine Cortez Masto (D-NV) and Todd Young (R-IN) introduced the Telemedicine Extension and Evaluation Act, important bipartisan legislation to ensure predictable patient access to telehealth following the end of the public health emergency, allow more time to gather data around virtual care utilization and efficacy, and avoid a sudden drop-off in access to care (known as the telehealth cliff).

What is the Telehealth Extension and Evaluation Act?

The Telehealth Extension and Evaluation Act would establish a two-year extension for certain COVID-19 emergency telehealth waivers. The legislation aims to extend the waivers of the geographic and site restrictions and allow Medicare beneficiaries to access telehealth even when at home; allow controlled substances to be prescribed via an initial telehealth encounter under the Ryan Haight Act; and extend Medicare payment flexibilities for Rural Health Centers (RHCs), Federally Qualified Health Centers (FQHCs), and Critical Access Hospitals (CAHs). To address Medicare program integrity concerns, the bill also introduces in-person restrictions on telehealth orders for certain high-cost durable medical equipment (DME) and laboratory tests. It also contains language that might serve to restrict the use of “incident to” billing for telehealth services.

“The waivers were a key part in allowing healthcare providers to meet patients where they live, and we risk reversing the great progress we have seen if we go back to the way things were prior to the pandemic.”

(- René Quashie, Vice President, Policy and Regulatory Affairs, Digital Health, Consumer Technology Association)

Key Takeaways for the Telehealth Industry

Here are the key takeaways on how the new legislation may affect the telehealth industry.

1. General Extension of Medicare Payment for Telehealth Services

Under the CARES Act, Congress gave CMS authority to waive certain limitations on Medicare coverage and payment for telehealth services furnished to Medicare beneficiaries, clearing the way for Medicare beneficiaries to receive care in their homes. If passed into law, the Telehealth Extension and Evaluation Act would extend certain Medicare telehealth payment waivers on originating site and geographic location limitations, expand the list of permissible telehealth providers, and broaden the availably of audio-only telehealth services for Medicare beneficiaries for two years after the public health emergency ends. Read our prior coverage here and here.----

Prior to 2020, there was a reticence to adopting telehealth. Although technology had outpaced the use of telehealth there was also a reluctance on the part of physicians to utilize this resource.  Reimbursement regulations were also restrictive preventing patients and physicians from utilizing telehealth. 

COVID 19 changed that. The emergency CARES ACT provided for the use of telehealth and required reimbursement by CMS and private insurers.  

The telehealth provision of the ACT is set to expire on December 31, 2022.  A bill is now in progress to extend this benefit for one or two years or make it permanent.

The Federal Telehealth Extension and Evaluation Act: What You Need to Know | Blogs | Health Care Law Today | Foley & Lardner LLP

Everything They Don’t Tell You About Taking Care of Aging Parents | by Adeline Dimond | Oct, 2022 | Medium

Get ready to fight, and don’t expect people to understand.

In addition to the emotional toll and time involved, there are few who can help. If you have enough money you can buy eldercare. But it ain't cheap.   Long-term care insurance is available but read the policy and benefits page carefully. 

2. Long-term care insurance might be bullshit.

When I recently wrote about the difficulty of taking care of my parents, including the stress of watching their savings dwindle, a lot of commenters wrote “I have long-term care insurance, so I’ll be fine.” Yeah, not so fast.

My parents also have long-term care insurance. They have (or had) exactly $938,000 in coverage. Their insurance only covers costs associated with an assisted living facility or a skilled nursing facility. It does not cover in-home care.

This is because halfway into paying premiums, the long-term care insurance company suddenly raised their rates. My father couldn’t afford the new premiums, but the long-term care insurance company continued to offer a cheaper option, one that only covered care if he entered a facility. Left with no real choice, he switched to the cheaper plan.

Some of the challenges:

1. Financial institutions will refuse to honor power-of-attorney documents.

Yes, this is likely illegal. But large financial institutions know that in order to be held accountable for failing to honor POA documents, the attorney-in-fact would need to sue them. Otherwise, there are no consequences for them at all. But suing a financial institution takes money and grit, which they are betting that the attorney-in-fact does not have.

Review the POA language very carefully.

In my case, my father’s POA documents listed my mother as his attorney-in-fact in the first instance, and me as a successor POA if my mother was “unable or unwilling to act.” My mother’s POA was the same, listing my father as the first POA. Financial institutions seized on this, asking me to “prove” that my parents were “unwilling or unable to act” on each other’s behalf.

Open a bank account with your parents.

I could have avoided all the above POA pitfalls if I simply were a signatory to my parent's bank accounts. Of course, not everyone has the type of relationship with their parents that allows for this; I definitely didn’t. But if you can swing this, being able to immediately access their funds at a moment’s notice is worth the uncomfortable conversations this might require. Parents hate giving up control.  I don't know why they would want to maintain control when they are dying or dead.  Some parents cannot get over  "I know what is best for you."

Go ahead and get the passwords to your parents’ accounts, and pretend to be them.

Eventually, in some cases, after it became clear that the financial institutions were going to block access to my parents’ accounts despite the perfectly executed POA documents, before spending my energy drafting more scary letters, I just got my parents’ passwords (and the answers to the security questions), logged on to their accounts, and pretended to be them.

I was warned by one financial institution that “they don’t allow this,” but I just didn’t care anymore. I have my parents’ authorization to access their accounts, and that’s enough for me.

https://adelinedimond.medium.com/everything-they-dont-tell-you-about-taking-care-of-aging-parents-de64e5bb47a7

Everything They Don’t Tell You About Taking Care of Aging Parents | by Adeline Dimond | Oct, 2022 | Medium

APIC urges members to disregard new CDC masking guidelines

Infection preventionists should continue to enforce universal masking for healthcare workers who come in contact with patients, says APIC.

The recent relaxation of masking guidelines for healthcare professionals by the Centers for Disease Control and Prevention (CDC) seems a bit premature to one professional organization,  The  Association for Professionals in Infection Control and Epidemiology (APIC) in a press release.

It is foolish to recommend a nationwide recommendation for a country of 350 million with a wide geographic area and diverse demographic. A more sensible approach is to make recommendations based on regional and local prevalence of Covid19.

COVID TRACKER

APIC urges members to disregard new CDC masking guidelines: 

Long COVID Experts: U.S. Government Needs to Do More | Time

Long COVID Experts and Advocates Say the Government Is Ignoring 'the Greatest Mass-Disabling Event in Human History'

Video of Patient with Long Covid

Many of the symptoms are identical to "chronic fatigue syndrome: which was a "wastebasket" term used to identify a constellation of signs and symptoms present in patients with 'Long Covid'.

Long Covid is still a constellation of signs and symptoms that scientists are studying.  There is strong evidence that it is linked to the immune system and there may be a genetic link for those who develop 'Long Covid"

Some think it is related to the activation of the Epstein-Barr virus, once thought to result in "chronic fatigue syndrome".  Both Chronic Fatigue Syndrome and Long Covid are enigmatic.  However modern science is showing that Long Covid is a real entity proven by tests that were not available at the time of Chronic Fatigue Syndrome.

Covid19 has been around for only 3 years, a very short time, and over the next decade we will see what else develops. The immune system has a long memory.

Long COVID Experts: U.S. Government Needs to Do More | Time

Prosopagnosia (face blindness) Do you suffer from this? Brad Pitt has it

People who are diagnosed with prosopagnosia often fall into one of two categories: either they are born with it or they acquire it.

Prosopagnosia is not related to memory problems, vision loss, or learning disabilities, but it's sometimes associated with other developmental disorders, such as autism spectrum disorder, Turner syndrome, and Williams syndrome. However, estimations reveal that as many as one in every 50 people may struggle with some lifetime form of the disorder, and experts hypothesize that it may run in families.

According to Blum, research “suggests that congenital, or lifelong, prosopagnosia is less prevalent.”

According to Andrey Stojic, director of general neurology at the Cleveland Clinic, children born with the illness “don’t seem to have any visible structural abnormality” in the brain.

Notably, doctors don’t fully understand what causes congenital prosopagnosia because there aren’t any obvious brain lesions in persons who have it.

In contrast, people who develop prosopagnosia later in life may have brain abnormalities brought on by a trauma or head injury.

According to Bonakdarpour, individuals can also develop prosopagnosia while dealing with Alzheimer’s illness or following a stroke.

What therapies are available for prosopagnosia?

Borna Bonakdarpour, MD

Assistant Professor of Neurology (Behavioral Neurology

Prosopagnosia is now untreatable, according to Bonakdarpour. The problem can be treated, though.

People who have the syndrome frequently attempt to distinguish between people by focusing on physical characteristics like hair color, gait, or voice.

Usually, a set of tests that measure a person’s memory and face recognition help neurologists make the diagnosis.

As doctors frequently take care to ensure that a patient’s face blindness is not an indication of a more extensive degenerative neurological disorder, Blum adds, “it can be a drawn-out process.”

It’s noteworthy that many people with the illness, like Pitt, won’t get an official diagnosis.

Many of the difficulties he’s discussing and the issues he has are not unusual for people to go through them, according to Stojic.

He continued, “It may be relatively crippling for folks. “Others find it difficult to comprehend,”