Integration of Diagnosis and Therapy
Martin Lindner | 2015-12-02
Genomic data, versatile imaging systems, and hybrid operating rooms are all setting the foundation for a new kind of medical care. In the future, treatment could be more customized, interdisciplinary, and less invasive than ever before – while at the same time offering more flexible forms of healthcare.
Genomic data, versatile imaging systems, and innovative surgical and interventional methods open up new opportunities for treatment, but also call for changes to the healthcare system.
In terms of precision medicine, genetic analyses are becoming increasingly integrated into diagnosis and therapy, while hybrid operating rooms and minimally invasive interventions have already become the standard in many areas.
The possibilities of customized, more controlled, and less physically taxing treatment expands the range of available therapies and promises a qualitative leap in patient care in the coming years.
The medicine of tomorrow is already a reality today, at least in some cases. The field of medicine is changing in a myriad of ways, such as through the use of genomic data, new imaging systems, hybrid operating rooms, and robot-assisted interventions. To summarize recent trends, treatment will soon be more customized, interdisciplinary, and less invasive than ever before – making it easier to meet the exact needs of an individual patient and deliver the right form of therapy.
When President Barack Obama announced the Precision Medicine Initiative in a State of the Union Address in early 2015, he provided the political framework for a medical mega trend: The will to treat patients in a more targeted way based on their specific condition.1 The idea of personalized medicine is not a new one. For the past hundred years, blood donors have been selected based on matching a patient's blood type, which maximizes the safety of blood transfusions. The idea of more precise therapy, however, has long had a wider basis. The most important part of this is research into the human genome.
Genomic Testing Arises
We are currently aware of over 80 million genetic variants in the human genome.2 An individual's genetic code may soon be able to be decoded at the cost of an MRI scan in the United States.3 This has catapulted genomic testing into the clinical arena. "The prospect of sequencing whole genomes for less than US$1,000 reshapes our thinking about genetic testing," claims Larry Jameson and Dan Longo in a recent essay on precision medicine.4
Implementing special screening and treatment measures for breast cancer, based on evaluating a patient’s genetic predisposition with analysis of the BRCA1 and BRCA2 breast cancer genes5 is an example of how medicine can be personalized through gene analyses. If the patient develops a tumor in the breast, the genetic activity pattern can be determined in the tumor cells using gene expression tests. Chemotherapy may not be necessary depending on the result, as it is now possible to determine – with precision – the customized required dose for a wide range of pharmaceuticals, including anti-depressants and specific cardiovascular drugs, based on a genetic profile.6
Therapy Control System
Proprietary solutions are already available. For example, more than 20 test kits, or companion diagnostic devices, have been approved for use in the United States. These can determine whether, for example, a patient with breast or colon cancer would benefit from antibody therapy due to a specific mutation in the tumor.7 Another example of personalized therapy is the number of patients with liver cancer who can be helped by irradiating the tumor internally. A range of diseases could be treated more precisely in the future. For example, quantitative MRI image analyses could be used to make better decisions on therapy and dose adjustments for patients with multiple sclerosis.8
The potential benefits of precision medicine are particularly obvious in the field of oncology, according to a recent analysis by the Director of the National Institutes of Health, Francis Collins, and his colleague, Harold Varmus.9 One-size-fits-all medicine – with unspecific and often toxic chemotherapy treatments – is shifting to more selective, gentle, molecular-based tumor treatments.10 Diagnostic tests are no longer just a means to diagnose the disease and give the subsequent treatment a general direction, but rather a way to control and optimize therapeutic success throughout the entire duration of treatment. Treatment becomes a continuously controlled process by integrating diagnosis and therapy.
The Hybrid Operating Room
The coupling of therapy and diagnosis is patent in modern hybrid operating rooms. As an example, many feature versatile imaging equipment such as robot-assisted angiography systems, which allow physicians to perform 3D image reconstructions in real time during a procedure.
Another more typical example is the catheter-assisted heart valve replacement, which was introduced in Europe just a decade ago – several thousand patients underwent transcatheter aortic valve replacement therapy (TAVR) in Europe between 2007 and 2011 alone.11
This technique has become the standard for treating older patients who would otherwise be unable to handle conventional heart surgery. During the procedure, a folded prosthetic valve is mounted on a special balloon catheter and advanced up to the heart. This is performed either by cardiothoracic surgeons via a small incision in the chest, or by interventional cardiologists through a blood vessel in the patient's groin – the catheter is then anchored at the location of the old valve. The procedure is currently guided using angiography, but in the future the entire CT-based surgical planning could be performed directly in the hybrid operating room.12
Other disciplines have used the flexibility of treatment in the hybrid operating room for some time. As neurosurgeon Karl Schaller and his colleagues at the University Hospital in Geneva describe, they can angiographically diagnose an emergency patient with a hemorrhaging brain aneurysm directly on the operating table. Using a surgical microscope, a 3D reconstruction of the cerebral vessels can be viewed in augmented reality, allowing the surgeons to easily find and close the aneurysm through an access point in the skull. Neuroradiologists can then immediately verify the success of the intervention.
Schaller et al. explain that the previous diagnostic and treatment steps for surgical planning, which were performed across several hospital departments, are now no longer needed.13
Of course, this development is not without conditions. Hybrid operating rooms not only have to be economically viable for hospitals, they also require a reorganization of internal work processes and the introduction of new specializations.14 While radiologists have been performing interventions for a long time, even using their own wards for the purpose, hybrid surgeons are now becoming imaging specialists, which means the existing disciplinary boundaries in medicine are blurring.
Incisions with No Visible Trace
Shanghai-based surgeons Hai Hu and An-An Xu talked recently about the pinnacle of minimally invasive surgery.15 In the 1980s, surgeons began removing gall bladders laparoscopically through small incisions in the abdominal wall. This invisible method has since been adopted for many other procedures around the world. Today, surgeons can even perform colon cancer surgeries laparoscopically. The procedure usually takes longer than an open abdominal operation due to the use of demanding technology, but on average patients lose less blood, have less pain afterwards, and can be sent home faster – with comparable long-term success.16
There have been new developments in this area, such as opening the abdominal cavity with a single incision and concealing the scar within the belly button. The technique, which is known as laparoendoscopic single-site surgery (LESS), uses novel access devices and flexible and/or articulating instruments.17 A related procedure called natural orifice translumenal endoscopic surgery (NOTES) uses the body's natural orifices, such as making a small incision in the vagina to access the abdominal cavity and remove the gallbladder.18 Endoscopic procedures can also be performed on the bladder through the urethra.
A Promising Scenario
All of these new approaches, however, will not make old procedures obsolete. Not every patient with colon cancer will be able to have minimally invasive surgery in the future, and not every patient with diabetes will have his or her genetic profile analyzed. Still, the possibilities are considerably improved when clinical methods become more precise and more flexible. For many patients, less invasive methods offer gentler and more customized treatment options. For physicians, this means they can explore a wide variety of options and choose the right one for their patient – the perfect scenario for the therapy of tomorrow.
About the Author:
Martin Lindner is an award-winning science writer based in Berlin, Germany. After his medical studies and a doctoral thesis on the history of medicine, he went into journalism. His articles have appeared in many major German and Swiss newspapers and magazines.
1Collins F, Varmus H (2015) A New Initiative on Precision Medicine. N Engl J Med 372:793-5
2Rehm HL, Berg JS, Brooks LD, et al. (2015) ClinGen – The Clinical Genome Resource. N Engl J Med 372:2235-42
3Hayden EC (2014) The $1,000 genome. Nature 507:294-5 (http://www.nature.com/news/technology-the-1-000-genome-1.14901)
4Hayden EC (2014) The $1,000 genome. Nature 507:294-5 (http://www.nature.com/news/technology-the-1-000-genome-1.14901)
5Ginsburg G (2014) Medical genomics: Gather and use genetic data in health care. Nature 508:451-3
6Dosing Guidelines of the Clinical Pharmacogenetics Implementation Consortium: https://www.pharmgkb.org/page/cpic, accessed July 3, 2015
7U.S. Food and Drug Administration. List of Cleared or Approved Companion Diagnostic Devices (www.fda.gov/MedicalDevices/ProductsandMedicalProcedures/InVitroDiagnostics/ucm301431.htm), accessed 03 July 2015
8Simon JH, Bermel RA, Rudick RA (2014) Simple MRI Metrics Contribute to Optimal Care of the Patient with Multiple Sclerosis. Am Neuroradiol 35:831-2
9Collins F, Varmus H (2015) A New Initiative on Precision Medicine. N Engl J Med 372:793-5
10de Bono JS, Ashworth A (2010) Translating cancer research into targeted therapeutics. Nature 467:543-9
11Mylotte D, Osnabrugge RL, Windecker S, et al. (2013) Transcatheter aortic valve replacement in Europe: adoption trends and factors influencing device utilization. J Am Coll Cardiol 62:210-9
12Börgermann J, Jategaonkar S, Haas N, et al. (2013) Hybrid operation theatre from the point of view of cardiac surgery. The future for the heart team. Chirurg 84:1022-9
13Schaller K, Cabrilo I, Pereira VM, Bijlenga P (2013) Hybrid operation theatre from the perspective of neurosurgery. Chirurg 84:1041-7
14Richter PH, Gebhard F (2013) The interdisciplinary hybrid operation theatre. Current experience and future. Chirurg 84:1036-40
15Hu H, Xu AA (2015) Towards the Holy Grail: What can we do for truly scarless surgery? World J Gastrointest Endosc 7:814-8
16Veldkamp R, Kuhry E, Hop WC, et al. (2005) Laparoscopic surgery versus open surgery for colon cancer: short-term outcomes of a randomised trial. Lancet Oncol 6:477-84
Buunen M, Veldkamp R, Hop WC, et al. (2009) Survival after laparoscopic surgery versus open surgery for colon cancer: short-term outcomes of a randomised trial. Lancet Oncol 10:44-52
17Gill IS, Advincula AP, Aron M, et al. (2010) Consensus statement of the consortium for laparoendoscopic single-site surgery. Surg Endosc 24:762-8
18Lehmann KS, Ritz JP, Wibmer A, et al. (2010) The German registry for natural orifice translumenal endoscopic surgery: report of the first 551 patients. Ann Surg 252:263-70
20Boston Group, BMJ Quality and Safety, http://bit.ly/1vTRO31
21Alisha Menezes, Allied Market Research, http://bit.ly/1C8w3Rl
22www.bccresearch.com, http://bit.ly/1p6ZHMt (last accessed 8/26/14)
23com, http://bit.ly/1p6ZHMt (last accessed 8/26/14)
23 University of California, Los Angeles, (UCLA), http://bit.ly/1pOQNJ4
24BCC Research, http://bit.ly/1wLGsCc
25Siemens Healthcare (Basis: Theranostics 2013; 3(6):437-447. doi:10.7150/thno.5658)