Full-Launch on April 5th, 2022
The Full Story
Medical Genomics and
Rare and Complex Patients
JOHN THIBAULT ADVOCACY SOLUTIONS INC . | JESSICAFEHRENBACH@JOHNTHIBAULT.ORG
:: JTAS, Inc. :: RARE LIVES MATTER :: MARCH 22, 2022 ::
It is with great pleasure that I announce April 5th, 2022
begins with the full-launch of John Thibault Advocacy
Solutions, Inc. to the public. As we highlight this amazing
milestone, we are thrilled to share the purpose of behind our
services with you now: JTAS, Inc. will introduce the
framework for the concept known as Concierge Case
Management, perfecting the tertiary analysis between
Clinical Medicine and Molecular Genetics.
JTAS, Inc.'s vision has come to life after our journey with trial-
and-error and subsequently incorporating leading Artificial
Intelligence (AI) automation with Bioinformatics Pipelines---
many of which have originated from validated research
during the worldwide Genomics effort. April 5th, 2022 marks
the full-service implementation our products and services at
JTAS, Inc, with an exclusive focus of providing Case
Management to patients affected by rare and undiagnosed
diseases, or complex genetic syndromes. Our unique practice
was designed entirely for an underrepresented subset of
medically vulnerable patients who are affected by complex
genetic syndromes; including patients presenting with rare,
unexplained, or undiagnosed disease.
The mission of JTAS, Inc. is to leverage recent advancements
in Human Genomics and software automation to deliver
definitive care to our patients with the compassionate
experience that embraces patient autonomy and celebrates
openness through patient-clinician collaboration.
AN INTRODUCTION :: THE ROAD TO LAUNCHING JTAS, INC.
It is with great pride that I provide today’s amazing update and announce
that Tuesday, April 5th, 2022, marks the Full-Scale Launch of JTAS, Inc.!! The best part is that, if you’re like me and just can’t wait that long, you’re in luck— TODAY March 22nd, 2022, marks the start of two National Events taking place in the Healthcare industry. The first being Medical Genetics Awareness Week which also coincides with the highly anticipated 2022 ACMG Annual Clinical Genetics Meeting. What's more, the 2022 ACMG Meeting features a hybrid platform where clinicians gather for the best four days of medical genetics. Medical genetics is experiencing growth and exciting development in diagnostic and treatment options. This is an opportunity to connect, reunite with your peers to learn about updates, hear case studies and experience a re-commitment to providing your patients with optimal care.
DEVELOPING THE VISION
After more than a dozen software demos and connecting with countless
talented organizations and clinicians our staff stands ready to welcome
patients into a unique experience where they discard their uncertainty and
gain a second family. To date, the diagnostic yield of traditional approaches
within clinical medicine and molecular genetics have been an abysmal
failure. However, by leveraging the strengths of both clinical medicine and
molecular genetics together, preliminary progress has created great hope
that Whole Genome Sequencing (WGS) may soon become part of the standard of care for preventative medicine and as a first-line diagnostic tool in healthcare, worldwide.
OUR PROMISE TO OUR PATIENTS
We promise we will work tirelessly to advocate for you and to always respect your right to informed consent. We promise to always tell you the truth. We hope we exceed your expectations as we replace today's outdated notion of impersonal, fragmented, high-volume Case Management. Instead, we have transformed the notion and envisioned our practice akin to a 'Concierge' Case Management model-- with a unique complement of offerings modeled after low-volume, "Concierge Medicine" concept that is poised to replace traditional, high-volume Primary Care practices. Our experience and promise is to exceed your expectations through our modernized version of 'Concierge' Case Management, all while exclusively representing an underserved population living with rare, undiagnosed, or complex diseases. We look forward to earning your trust and building a relationship with you as a trusted member of your healthcare team.
Generally speaking, the purpose and the vision of the Precision Medicine Initiative is to improve the clinical utility and provide actionable data for clinical providers about their patients from a simplified "translation" derived from their Whole Genome Sequencing (WGS) RAW data. Since 2015, the White House Initiative has promoted the study and advancement of Human Genetics as a scientific discipline. The Initiative's purpose essentially aims to one day be able to sequence a patient's Whole Genome and reliably report objective, unbiased, and actionable data to treat or cure them o the providers of clinical medicine.
To achieve this vision, researchers and clinicians presently are
contributing to a collective repository of clinical symptoms and biochemical values which serve as ‘phenotype’ databases which are compared to individual genes known as ‘genotype’. Once WGS sequencing is complete with RAW data, this highly complex process begins with comparing genotype data of the ‘proband’ or ‘index patient’ against the phenotype data repository to identify the presence of genetic variants identical to known Pathogenic variants (disease-causing) or Likely Pathogenic variants. However, when analyzing genetic variants identified as novel or Variants of Unknown Significance (VUS), their pathogenicity or benign nature is unclear. Thus, the expansion and success of Genomic Sequencing to overcome the fallacies of today’s clinical medicine relies upon further identification of phenotype-genotype correlations.
The overwhelming reality is that in clinical medicine, you do not want to be rare. To be rare is to be one of the few, the undiagnosed, or the incurable. The pathway to overcome today’s medicine for the masses by harnessing the Human Genome therefore relies on skilled, impassioned clinicians working with a subset of rare patients who our current healthcare model has largely neglected, oftentimes refusing to entertain the hope of improvement or survival. Since 2012, enormous progress within Human Genomics has demonstrated that this failure has been largely influenced by the limited diagnostic value of diagnosing patients merely based on an exam and their clinical symptoms. Countless peer-reviewed studies have echoed the sentiment that clinical providers’ accuracy in reaching a confirmed molecular diagnosis by evaluating clinical symptoms has remained a complete failure. It is theorized that the clinical symptoms of individuals with complex genetic variants interacting with one another has led to an imprecise understanding of how genotype (individual gene variants) manifests phenotype (symptoms) in clinical disease.
Won’t YOU join us ?
After all, as a society isn't it now overwhelmingly obvious that we are all tired of being sick, and tired?
How can we know what is rare and what is not, until we take the time to research and discover for ourselves? And isn't it time to acknowledge that we can do better than all but neglecting rare or complex disease patients? By claiming this has been necessary to prioritize funding, our society and clinicians meekly accept the sentiment that it is necessary to advance a field of scientific discipline by resigning medical outliers to accept hospice and palliative care as we profess to "do the best for the most" --and simultaneously choose to give up-- rather than to question how we've stopped searching for the truth.
Have we lost ourselves in the illusion that one thousand lives matter more than one dozen?
Should we accept the fate of those who train to save lives--- and yet, they too will fail and then come to accept the overwhelming shortcomings of effective medicine and patient care with decisions derived from clinicians diagnosing patients using traditional office exams. Thus, our collective healthcare industry has resigned itself to abandon any hope for the notion of "modern" in medicine-- in favor of natural selection for our most challenging and vulnerable patients-- which supporters purport is absolutely necessary to promote uniform distribution of staffing and supplies worldwide.
Until recently, there was little hope but to advocate for awareness and perhaps to nominate an honorary annual celebration of rare disease patients themselves.
Funding from special interest groups of research and in drug manufacturing for ‘Big Pharma’ has all-but-ignored diseases that are 'too infrequent' (or too rare) --and therefore deemed 'unprofitable'-- as not aligning with promoting public interest and therefore “unworthy” of investing private or public funding into researching the treatments or cure.
In closing, I'll leave you with this--
The time has come to say enough is enough of the old sentiment that medicine is for the masses.
It is no longer 'good enough' to hide behind the ignorance of healthcare as a scientific discipline
We must reject the long-standing failures of our healthcare system and while to "do the best, for the most".
Now, is the time to embrace the value of studying the lives of us all, and to document every change: no matter how small.
So, regardless of whoever you are, or whatever fuels you our motto is simple:
Choose JTAS, Inc. to help you find the answers so that you can get back to
when things were easier: back to being simply good and originally you.
*Citation: It is the policy of John Thibault Advocacy Solutions, Inc. Clinician-Patient ratios (case volume) at JTAS, Inc. will remain at or below 10% of the National average caseload representing a Clinician-Patient ratio of Individual Case Managers in the United States