An Emerging Sub- Specialty for Patients with Complex Conditions

Linda N. Geng, M.D., Ph.D., Abraham Verghese, M.D., and Jon C. Tilburt, M.D.   NEJM Dec 23 2021

Patients with unusual, perplexing, or complex symptoms and conditions are not well served by
the fast-paced U.S. health care system.

An estimated 20 to 30% of all primary care consultations are for “medically unexplained symptoms” for which standard evaluations have resulted in no medical diagnosis.1,2

Although clinicians may be tempted to assume that psychological factors account for these symptoms, this large and heterogeneous group of patients also includes those with rare diseases, atypical presentations, new or unknown conditions, and complex illnesses
that challenge standard evaluation.

These patients have varied presentations and outcomes, but they often share a common experience: long, exasperating diagnostic journeys in which they bounce from specialist to specialist in an ultraspecialized health care system that rewards high throughput rather than individualized care.

In recent years, medical centers around the world have been exploring ways to help patients with puzzling ailments who fall through the cracks of established health care systems, reflecting the emergence of “consultative medicine” as a diagnostic specialty.

This emerging specialty, rooted in generalism, aims to integrate the best of the Oslerian diagnostic tradition with the multidisciplinary collaboration and modern technologies needed to tackle uncertain, difficult, or complex diagnoses.

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Dr Tal Zaks at Moderna, the innovative pharmaceutical company, describes how their process takes this information about a patient’s normal genes and information from his/her mutated genes found in his/her cancer and pushes both to the cloud. A bioinformatics algorithmic process in the cloud predicts up to 34 mutations that will help our immune system to be much more effective and launch an attack on cancer. Moderna’s process creates a vaccine that encodes for each of these mutations and loads them onto a single mRNA molecule. Once a cancer vaccine is injected it tells the body to express portions of the mutations so that the immune system will recognize the cancer and not attack normal cells which chemotherapy does. Each personalized vaccine is produced on a just in time basis and usually within a few weeks. The combination of personalized m-RNA cancer vaccines plus immunotherapy with checkpoint inhibitors, such as Keytruda, is a powerful way to destroy cancer cells by activating the immune system.

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The doctors reported first. The nurses seemed to be excluded. The hierarchy of influence limited the discussion.

Our job as advocates was to deepen the analysis of both the problem and possible solutions.

Our team at RCM Health Consultancy Inc. (RCM) led by Raymond Rupert, patient advocate, was fulfilling the role of the advocate in representing the rights of our client ( the patient) to access timely and quality care in order to achieve the best outcome possible.

We began to understand that the hospital team did not have a plan. Their actions were entirely reactive. There was chaos. They were traumatizing the patient. They were confusing the family. They were not advancing the care.

When we started to ask questions about their actions, it was clear that these questions were not welcome.

But our job as advocates is to ask questions, to go deeper in terms of the analysis of the root cause(s), to bring new ideas to the table, to introduce positive strategies used in other hospitals and universities.

That was unfortunately not welcome. In fact, our work as advocates was seen to be disruptive.

But we realized that to advance the quality of care in this case, it was necessary for us to be disruptive when in fact we were deepening the analysis of this case with the objective of achieving the best outcome posssible for the patient.

So we have settled into our role as being perceived to be disruptors of a fragmented process of care that needs to change in order to protect the rights of the patient to be the best outcome possible.

Raymond Rupert, patient advocate and healthcare consultant.

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She has been in hospital for 2 weeks.

Because she is complex, a plan is required to manage her. And it is important that there be a multi-disciplinary team that is collaborating and keeping the family updated.

Unfortunately, there was no plan. That became very evident during and after the case conference.

The case conference involved 12 persons including a bio-ethicist, the MRP ( most responsible physician), the hospital’s 2 psychiatrists, GI medicine, the dieticians, the nursing team, the parents) and Raymond Rupert from RCM Health Consultancy as well as RCM’s nurse practitioner and RCM’s in house psychiatrist.

The MRP led the discussion. Each doctor provided commentary. The actions taken to date were reactive. The hierarchy was at work. Most others at the case conference were not allowed to comment.

It became very clear that the hospital did not have a plan. They disregarded assessments done elsewhere. The not invented here syndrome.

This case conference bordered on chaos. I was embarassed by it.

The attendees are going to be surprised when we ask for another case conference next week to see what the treatment plan is.

Persistence and collaboration will be important to get the best outcome possible for this patient.

Raymond Rupert patient advocate and healthcare consultant.

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