Category Archives: Pharmacogenomics

SPECIAL REPORT: TREATMENT RESISTANCE

Schizophrenia affects about 1% of the population and causes a tremendous burden on patients and families.1 Patients with schizophrenia present with diverse symptoms (ie, positive, negative, and cognitive), and the course and response to treatment varies widely. The basis of this heterogeneity is unknown but presumably results from a complex interaction of multiple genetic and environmental factors. To establish more homogeneous subpopulations, efforts have been made to use subtype based on clinical presentation or response to treatment, or by biomarkers derived from imaging, omics, or postmortem pathology (Figure). Due to the heterogeneity, subtyping approaches hold promise and should be considered when designing studies.

Definition of Response Subtypes

About 70% of patients respond at least reasonably well to treatment with standard antipsychotics (plus psychosocial interventions), and hence are considered to have nontreatment-resistant schizophrenia (non-TRS). However, up to 30% of patients do not respond to standard antipsychotic treatment and are therefore considered to have TRS, generally defined as a failed response to 2 full trials of conventional antipsychotics (see Treatment Response and Resistance in Psychosis [TRRIP] guidelines2 for more details). The only US Food and Drug Administration (FDA)-approved medicine for TRS is clozapine3; however, about 30% of TRS patients do not respond to clozapine and are considered to have ultra-TRS (UTRS).4 Currently, these definitions refer mainly to improvement in positive symptoms, reflecting the greater efficacy of available antipsychotics for treating positive symptoms compared to negative and cognitive symptoms. TRS (grouped together with UTRS in most studies) may derive from a more severe version of the same underlying pathophysiology as non-TRS. However, it is possible that TRS may be a distinct subtype of the illness with a different pathophysiology than non-TRS.5,6

Clinical Features

Analysis of clinical phenotype suggests that patients with TRS have an earlier age of onset than patients with non-TRS.7,8 Unlike non-TRS, the ratio of men to women with TRS is equal,7,8 although the extent to which this reflects a biological difference between non-TRS and TRS rather than the interaction of gender roles and age of disease onset remains to be determined. At the time of first diagnosis, patients who eventually develop TRS are more likely than future non-TRS patients to be inpatients, to require moremedicine, and to spend more than 30days in a psychiatric hospital.8 Cognitive functioning, and particularly verbal memory, is more impaired in patients with TRS than with non-TRS.9,10 TRS may also be more familial than non-TRS; first- and second-degree relatives of patients with TRS have an increased risk of developing schizophrenia compared with relatives of patients with non-TRS.11 The extent to which positive, negative, and cognitive symptoms associate with this different pattern of inheritance remains unclear.

Neurobiological Features

To understand the neurobiology of TRS, investigations have taken 2 general approaches. One is to determine the genetics of clozapine response, and the second is to identify genes and biological pathways most relevant to TRS. Initial pharmacogenetic studies of clozapine took a candidate gene approach and tended to focus on the major neurotransmitter systems implicated in the pharmacodynamics of clozapine and other antipsychotics. Response to clozapine was preliminarily associated with genetic markers linked to dopamine and serotonin receptors.12 However, these findings have not been consistently replicated, possibly due to variation in the criteria used to select subjects, inconsistencies in the definition of TRS, and ethnic differences among the populations under investigation, all in the context of small effect sizes.

Unbiased, noncandidate approaches to the neurobiology of schizophrenia provide an opportunity to identify novel pathogenic pathways. Because developing new antipsychotics based on fine-tuning the neurotransmitter profile of previously developed antipsychotics has not led to marked breakthroughs in clinical efficacy, this new approach is of critical importance. This is reflected in more recent pharmacogenomic approaches, using genome-wide association studies (GWAS) instead of data limited to markers associated with prespecified candidate genes. Findings suggest that patients with TRS, compared with patients with non-TRS, have higher polygenetic risk scores (an index of overall genetic risk of developing a disease),13 a higher frequency of disruptive mutations,14 and higher rates of chromosomal duplications and deletions.15 This approach has found an association between specific genomic loci and TRS including inter-alpha-trypsin inhibitor heavy chain 3/4 (ITIH3/4); calcium voltage-gated channel subunit alpha1 C (CACNA1C); and serologically defined colon cancer antigen 8 (SDCCAG8).16 Many of these studies have not yet been replicated, again likely a consequence small sample size, inconsistent inclusion criteria, and varying definitions of TRS.

As an alternative approach to pharmacogenomic studies of clozapine using GWAS, our laboratory examined gene expression in autopsied human brains from individuals with TRS (on clozapine at time of death) and non-TRS (on conventional antipsychotics at time of death).17 A number of specific genes were differently expressed, including the genes glutamate-cysteine ligase modifier subunit (GCLM), zinc finger protein 652 (ZNF652), and glycophorin C (GYPC). Pathways associated with TRS included clathrin-mediatedendocytosis, stress-activated protein kinase/c-Jun-terminal kinase signaling, 3-phosphoinositide synthesis, and paxillin signaling, each providing potential leads in the search for new therapeutic targets.

Imaging Features

Imaging studies show relative frontal and temporal grey matter volume deficits in TRS,18-21 possible white matter tract disruption,22 and disruptions of functional connectivity, particularly in frontotemporal networks, with direct and indirect involvement of the thalamus.23-25 Perfusion measured by single-photon emission computerized tomography (SPECT) appears to be reduced in multiple brain regions in TRS and is partially corrected by clozapine; clinical improvement correlates with improved perfusion in the thalamus.18,26,27

Further, treatment-resistant hallucinations correlated with increased cerebral blood flow measured by arterial spin label MRI in the temporal-parietal cortex.28 (18)F-FDOPA positron emission tomography studies detected higher striatal DA synthesis capacity in patients with non-TRS than in those with TRS and healthy control (HC) individuals, but no difference in DA synthesis capacity between TRS and HC.29 Elevatedglutamateconcentration in the anteriorcingulate cortexwas identified in the patients with TRS compared with non-TRS and HC,30 a finding that was subsequently replicated.31 The utility of these measures for determining which patients should receive clozapine remains to be determined.

Differentiating UTRS and TRS

To date, few studies separate TRS from UTRS, which is potentially a serious impediment to defining disease neurobiology, as these 2 forms of TRS may be pathologically and pathophysiologically distinct. The findings of the few studies that have directly compared TRS with UTRS, or UTRS with HC, are listed in Table 1. It is likely that these are fundamental to the illness and not a factor of disease progression because the majority of patients who develop TRS do so from the onset of symptoms,39and the majority of patients with UTRS show limited improvement from the beginning of treatment with clozapine. So far, these findings remain preliminary and await replication. Using biochemical techniques, our laboratory has recently demonstrated increased protein insolubility, and potentially protein aggregation, in a subset of autopsied brains of individuals with schizophrenia.40 It is possible that this phenomenon, or related pathophysiological processes, may distinguish among non-TRS, TRS, and UTRS.

We performed a cross-sectional study to determine if there are differences in symptoms, cognitive functioning, or real-world functional capacity that distinguish UTRS from TRS.41 Patients who responded to clozapine performed significantly better on a validated assessment tool of function, developed by Philip Harvey, PhD, and colleagues, consisting of computer simulations of banking at an ATM, purchasing a ticket, and obtaining a prescription refill, and on overall cognition as assessed by the Brief Assessment of Cognition in Schizophrenia. The cross-sectional design did not allow us to determine if patients who eventually responded to clozapine were as impaired as eventual nonresponders but improved on clozapine, or if they were less functionally impaired at the outset of clozapine treatment. This last question will be addressed in a longitudinal study of individuals beginning treatment with clozapine.

This study highlights the potential confounding of grouping UTRS with TRS in studies of disease phenotype, pathogenesis, and treatment response. It is possible, for instance, that someor allof the genetic and neurobiological differences reported between non-TRS and TRS is in fact driven by UTRS. Furthermore, our work on protein homeostasis abnormalities and protein insolubility suggests that pathological processes can be identified in a subtype of patients with clinical correlations subsequently determined and eventually, specific treatments designed (Figure).40 Taken together, the available data suggests that subtyping based on treatment response is a plausible approach to understanding the heterogenous pathophysiological mechanisms related to schizophrenia. This is somewhat analogous to the past recognition that subtypes of psychotic syndromes that strongly resemble idiopathic schizophrenia could be explained by infections (eg, syphilis), nutritional deficiency (eg, niacin), or substances (eg, chronic amphetamine abuse).

Historically, this type of reasoning has led to advances and specific treatments, as specific causes of psychotic syndromesincluding syphilis, niacin deficiency, and chronic amphetamine abusewere identified. TRS is one way to subtype patients, but other approaches using variability in physiological parameters, such as the Bipolar and Schizophrenia Network for Intermediate Phenotypes (BSNIP), or protein homeostats abnormalities, as we have shown, are other ways that this problem could be addressed.

Recommendations for Treatment

Although clozapine has been clearly established as the treatment of choice for individuals with schizophrenia who do not respond to 2 trials of a standard antipsychotic, or who have other specific indications, it is vastly underused. Based on the rate of treatment failure of conventional antipsychotics, the indication of clozapine for reducing the risk of suicide, the relatively low risk of neurological disorders with clozapine, and the potential value of the drug in ameliorating schizophrenia symptoms such as polydipsia, between 30% and 40% of US patients with schizophrenia should be receiving clozapine, whereas the actual rate is approximately 4%.42 Even for those receiving clozapine, the average delay from the point in time when clozapine would have been considered indicated is 48 months.43 Patients who might respond to clozapine are instead treated with multiple antipsychotics or high-dose antipsychotics. The underuse is likely a consequence of strict guidelines for prescribing clozapine that burden both clinicians and patients, and fear of adverse effects on the part of patient, family, and clinicians.

Unfortunately, our current understanding of the neurobiology of TRS and UTRS is insufficient to predict who will respond to clozapine and who will develop adverse effects. Delay in initiating clozapine treatment is associated with poorer outcomes, and potentially with adverse effects from exposure to excess doses of ineffective medicines. Clozapine adverse effects can be monitored and mitigated, and data suggest that patients are less bothered by mandatory blood draws than prescribers tend to think and prefer clozapine to other medications.44-46

There are a number of resources to help prescribers wishing to use clozapine (Table 2). Expanding these programs and seeking advice from established clozapine clinics, such as the one we have at Johns Hopkins, and others across the country could provide instruction and consultation. Improving the ease of use of the agent and relaxing some of the Clozapine Risk Evaluation and Mitigation Strategy registry restrictions could help address the underutilization of clozapine.

Concluding Thoughts

These data suggest that subtyping patients based on treatment response (TRS or UTRS versus non-TRS) could identify more homogeneous populations of patients with distinct differences in pathophysiology. Understanding the mechanisms leading to TRS and UTRS, and the difference between the 2, may provide the opportunity to develop biomarkers of disease state and treatment response, and to develop novel treatments. Further, the available data suggests that genetic, clinical, and pathogenic studies will benefit by considering treatment response as a variable. Finally, patients with schizophrenia who do not respond well to treatment suffer considerably and place great stress on their families and the health care system. Investment in research and services for this group of patients is imperative.

Dr Nucifora is an associate professor of psychiatry and behavioral sciences at Johns Hopkins University School of Medicine in Baltimore, Maryland.

References

1. Saha S, Chant D, Welham J, McGrath J. A systematic review of the prevalence of schizophrenia.PLoS Med. 2005;2(5):e141.

2. Howes OD, McCutcheon R,Agid O,et al. Treatment-resistant schizophrenia: Treatment Response and Resistance in Psychosis (TRRIP) working group consensus guidelines on diagnosis and terminology. Am J Psychiatry.2017;174(3):216-229.

3. Nucifora FC Jr, Mihaljevic M, Lee BJ, Sawa A. Clozapine as a model for antipsychotic development.Neurotherapeutics. 2017;14(3):750-761.

4. Siskind D, Siskind V, Kisely S. Clozapine response rates among people with treatment-resistant schizophrenia: data from a systematic review and meta-analysis.Can J Psychiatry. 2017;62(11):772-777.

5. Gillespie AL, Samanaite R, Mill J, Egerton A, MacCabe JH. Is treatment-resistant schizophrenia categorically distinct from treatment-responsive schizophrenia? a systematic review.BMC Psychiatry. 2017;17(1):12.

6. Nucifora FC Jr, Woznica E, Lee BJ, Cascella N, Sawa A. Treatment resistant schizophrenia: clinical, biological, and therapeutic perspectives.Neurobiol Dis. 2019;131:104257.

7. Meltzer HY, Rabinowitz J, Lee MA, Cola PA, Findling RL, Thompson PA. Age at onset and gender of schizophrenic patients in relation to neuroleptic resistance.Am J Psychiatry. 1997;154(4):475-482.

8. Wimberley T, Stvring H, Srensen HJ, et al. Predictors of treatment resistance in patients with schizophrenia: a population-based cohort study. Lancet Psychiatry. 2016;3(4):358-366. Published correction appears in Lancet Psychiatry. 2016;3(4):320.

9. Joober R, Rouleau GA, Lal S, et al. Neuropsychological impairments in neuroleptic-responder vs -nonresponder schizophrenic patients and healthy volunteers.Schizophr Res. 2002;53(3):229-238.

10. de Bartolomeis A, Balletta R, Giordano S, et al. Differential cognitive performances between schizophrenic responders and non-responders to antipsychotics: correlation with course of the illness, psychopathology, attitude to the treatment and antipsychotics doses.Psychiatry Res. 2013;210(2):387-395.

11. Joober R, Rouleau GA, Lal S, et al. Increased prevalence of schizophrenia spectrum disorders in relatives of neuroleptic-nonresponsive schizophrenic patients.Schizophr Res. 2005;77(1):35-41.

12. Sriretnakumar V, Huang E, Mller DJ. Pharmacogenetics of clozapine treatment response and side-effects in schizophrenia: an update.Expert Opin Drug Metab Toxicol. 2015;11(11):1709-1731.

13. Frank J, Lang M, Witt SH, et al. Identification of increased genetic risk scores for schizophrenia in treatment-resistant patients.Mol Psychiatry. 2015;20(7):913.

14. Ruderfer DM, Charney AW, Readhead B, Kidd BA. Polygenic overlap between schizophrenia risk and antipsychotic response: a genomic medicine approach.Lancet Psychiatry. 2016;3(4):350-357.

15. Martin AK, Mowry B. Increased rare duplication burden genomewide in patients with treatment-resistant schizophrenia.Psychol Med. 2016;46(3):469-476.

16. Hamshere ML, Walters JT, Smith R, et al. Genome-wide significant associations in schizophrenia to ITIH3/4, CACNA1C and SDCCAG8, and extensive replication of associations reported by the Schizophrenia PGC. Mol Psychiatry. 2013;18(6):708-712. Published correction appears in Mol Psychiatry. 2013;18(6):738.

17. Lee BJ, Marchionni L, Andrews CE, et al. Analysis of differential gene expression mediated by clozapine in human postmortem brains.Schizophr Res. 2017;185:58-66.

18. Molina V, Tamayo P, Montes C, et al. Clozapine may partially compensate for task-related brain perfusion abnormalities in risperidone-resistant schizophrenia patients.Prog Neuropsychopharmacol Biol Psychiatry. 2008;32(4):948-954.

19. Anderson VM, Goldstein ME, Kydd RR, Russell BR. Extensive gray matter volume reduction in treatment-resistant schizophrenia.Int J Neuropsychopharmacol. 2015;18(7):pyv016.

20. Quarantelli M, Palladino O, Prinster A, Schiavone V. Patients with poor response to antipsychotics have a more severe pattern of frontal atrophy: a voxel-based morphometry study of treatment resistance in schizophrenia.Biomed Res Int. 2014;2014:325052.

21. Maller JJ, Daskalakis ZJ, Thomson RH, Daigle M, Barr MS, Fitzgerald PB. Hippocampal volumetrics in treatment-resistant depression and schizophrenia: the devils in de-tail.Hippocampus. 2012;22(1):9-16.

22. Holleran L, Ahmed M, Anderson-Schmidt H, et al. Altered interhemispheric and temporal lobe white matter microstructural organization in severe chronic schizophrenia.Neuropsychopharmacology. 2014;39(4):944-954.

23. Wolf ND, Sambataro F, Vasic N, et al. Dysconnectivity of multiple resting-state networks in patients with schizophrenia who have persistent auditory verbal hallucinations.J Psychiatry Neurosci. 2011;36(6):366-374.

24. Vercammen A, Knegtering H, den Boer JA, Liemburg EJ, Aleman A. Auditory hallucinations in schizophrenia are associated with reduced functional connectivity of the temporo-parietal area.Biol Psychiatry. 2010;67(10):912-918.

25. Alonso-Sols A, Vives-Gilabert Y, Grasa E, et al. Resting-state functional connectivity alterations in the default network of schizophrenia patients with persistent auditory verbal hallucinations.Schizophr Res. 2015;161(2-3):261-268.

26. Molina Rodrguez V, Montz Andre R, Prez Castejn MJ, et al. Cerebral perfusion correlates of negative symptomatology and parkinsonism in a sample of treatment-refractory schizophrenics: an exploratory 99mTc-HMPAO SPET study.Schizophr Res. 1997;25(1):11-20.

27. Molina V, Gispert JD, Reig S, et al. Cerebral metabolic changes induced by clozapine in schizophrenia and related to clinical improvement.Psychopharmacology (Berl). 2005;178(1):17-26.

28. Wolf ND, Grn G, Sambataro F, et al. Magnetic resonance perfusion imaging of auditory verbal hallucinations in patients with schizophrenia.Schizophr Res. 2012;134(2-3):285-287.

29. Demjaha A, Murray RM, McGuire PK, Kapur S, Howes OD. Dopamine synthesis capacity in patients with treatment-resistant schizophrenia.Am J Psychiatry. 2012;169(11):1203-1210.

30. Demjaha A, Egerton A, Murray RM, et al. Antipsychotic treatment resistance in schizophrenia associated with elevated glutamate levels but normal dopamine function.Biol Psychiatry. 2014;75(5):e11-e13.

31. Mouchlianitis E, Bloomfield MAP, Law V, et al. Treatment-resistant schizophrenia patients show elevated anterior cingulate cortex glutamate compared to treatment-responsive.Schizophr Bull. 2016;42(3):744-752.

32. Griffiths K, Millgate E, Egerton A, MacCabe JH. Demographic and clinical variables associated with response to clozapine in schizophrenia: a systematic review and meta-analysis.Psychol Med. 2021;51(3):376-386.

33. Molina Rodrguez V, Montz Andre R, Prez Castejn MJ, et al. SPECT study of regional cerebral perfusion in neuroleptic-resistant schizophrenic patients who responded or did not respond to clozapine.Am J Psychiatry. 1996;153(10):1343-1346.

34. Goldstein ME, Anderson VM, Pillai A, et al. Glutamatergic neurometabolites in clozapine-responsive and -resistant schizophrenia.Int J Neuropsychopharmacol. 2015;18(6):pyu117.

35. Iwata Y, Nakajima S, Plitman E, et al. Glutamatergic neurometabolite levels in patients with ultra-treatment-resistant schizophrenia: a cross-sectional 3T proton magnetic resonance spectroscopy study.Biol Psychiatry. 2019;85(7):596-605.

36. McNabb CB, Tait RJ, McIlwain ME, et al. Functional network dysconnectivity as a biomarker of treatment resistance in schizophrenia.Schizophr Res. 2018;195:160-167.

37. Fond G, Godin O, Boyer L, et al; FACE-SZ (FondaMental Academic Centers of Expertise for Schizophrenia) Group. Chronic low-grade peripheral inflammation is associated with ultra resistant schizophrenia. Results from the FACE-SZ cohort.Eur Arch Psychiatry Clin Neurosci. 2019;269(8):985-992.

38. Kim J, Plitman E, Iwata Y, et al. Neuroanatomical profiles of treatment-resistance in patients with schizophrenia spectrum disorders.Prog Neuropsychopharmacol Biol Psychiatry. 2020;99:109839.

39. Demjaha A, Lappin JM, Stahl D, et al. Antipsychotic treatment resistance in first-episode psychosis: prevalence, subtypes and predictors.Psychol Med. 2017;47:1981-1989.

40. Nucifora LG, MacDonald ML, Lee BJ, et al. Increased protein insolubility in brains from a subset of patients with schizophrenia.Am J Psychiatry. 2019;176(9):730-743.

41. Nucifora FC Jr, Baker KK, Stricklin A, et al. Better functional capacity and cognitive performance in clozapine responders compared to non-responders: a cross-sectional study.Schizophr Res. 2021;229:134-136.

42. Meltzer HY. Clozapine: balancing safety with superior antipsychotic efficacy.Clin Schizophr Relat Psychoses. 2012;6(3):134-144.

43. Howes OD, Vergunst F, Gee S, McGuire P, Kapur S, Taylor D. Adherence to treatment guidelines in clinical practice: study of antipsychotic treatment prior to clozapine initiation.Br J Psychiatry. 2012;201(6):481-485.

44. Nielsen J, Dahm M, Lublin H, Taylor D. Psychiatrists attitude towards and knowledge of clozapine treatment.J Psychopharmacol. 2010;24(7):965-971.

45. Hodge K, Jespersen S. Side-effects and treatment with clozapine: a comparison between the views of consumers and their clinicians.Int J Ment Health Nurs. 2008;17(1):2-8.

46. Taylor DM, Shapland L, Laverick G, Bond J, Munro J. Clozapine a survey of patient perceptions. Psychiatr Bull. 2000;24(12):450-452.

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Reducing Heterogeneity in NonTreatment-Resistant and Treatment-Resistant Schizophrenia - Psychiatric Times

DUBLIN, Dec. 30, 2021 /PRNewswire/ -- The "Europe Molecular Diagnostics Market - Growth, Trends, COVID-19 Impact, and Forecasts (2021 - 2026)" report has been added to ResearchAndMarkets.com's offering.

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The European molecular diagnostics market was valued at USD 3,435 million in 2020, and it is expected to reach USD 7,790 million in 2026, registering a CAGR of 8.57% during the forecast period.

The COVID-19 outbreak is expected to positively impact the European molecular diagnostics market, as it involves the testing of various biological samples.

This is expected to aid the diagnosis of infectious diseases, such as COVID-19, as testing remains a crucial step in controlling the COVID-19 pandemic. Molecule diagnostics technology, such as next-generation sequencing, PCR, microarrays, etc., is increasingly adopted in the region for testing for severe acute respiratory syndrome-coronavirus 2 (SARS-CoV-2).

Factors, such as the increasing burden of various bacterial and viral epidemics in this region, coupled with increasing demand for point-of-care diagnostics and recent advancements in pharmacogenomics, are expected to propel market growth over the forecast period.

As per the report published in 2019, HIV outcomes: Beyond Viral Suppression, around 86,000 people in Germany were living with HIV, whereas around 20% of the diseased population were living in Berlin.

Additionally, according to the estimates of the British Heart Foundation, in 2018, around 7 million people were living with heart and circulatory diseases in the United Kingdom, and healthcare costs relating to the heart and circulatory diseases were estimated at GBP 9 billion each year.

Thus, the heavy burden of chronic disease is anticipated to increase the adoption of molecular diagnostics in the region.

Key Market Trends

The Infectious Disease Segment is Expected to Hold the Major Market Share

The infectious disease segment is anticipated to hold one of the major market shares over the forecast period. The segment is driven by the huge burden of infectious disease in the European region. For instance, sexually transmitted infections (STIs) represent an important public health problem in the United Kingdom.

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According to the Health Protection Report 2019, 447,694 new STI diagnoses were made at sexual health services (SHSs) in England. Among these, the most commonly diagnosed STIs were chlamydia (218,095; 49% of all new STI diagnoses), first episode genital warts (57,318; 13%), gonorrhoea (56,259; 13%), and genital herpes (33,867; 8%). Therefore, a rise in the prevalence of such infectious disorders is expected to fuel the market growth during the forecast period.

Moreover, players in the region are expanding their regional market position by adopting various strategies, such as mergers and acquisitions, while others are developing new test methods for the diagnosis and introducing new products to retain their market share.

For instance, in May 2021, Swiss pharmaceutical giant, Roche, entered into a definitive merger agreement with GenMark Diagnostics, under which Roche may acquire GenMark's molecular tests designed to screen patient samples for multiple infections simultaneously. Hence, considering all the factors mentioned above, the market is expected to witness growth over the forecast period.

Competitive Landscape

The European molecular diagnostics market is competitive due to the presence of almost all global players in the molecular diagnostics market. Many of these global players have their headquarters in European countries, which increases the accessibility of molecular diagnostics tests throughout Europe.

Abbott Laboratories, F Hoffmann-la Roche Ltd, Hologic Corporation, Danaher Corporation, and Agilent Technologies are some of the key players present in the European molecular diagnostics market. Many of the key players also have their R&D centers in Europe, which makes the availability of various products easier in the region.

Companies Mentioned

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European Molecular Diagnostics Market 2021-2026: Infectious Disease Segment is Expected to Hold the Major Market Share - Yahoo Finance

The global DNA Testing/Diagnostics market report is a comprehensive research that focuses on the overall consumption structure, development trends, sales models and sales of top countries in the global DNA Testing/Diagnostics market. The DNA Testing/Diagnostics market report provides a complete study of this industry vertical, emphasizing on the crucial growth drivers, opportunities, and limitations projected to shape the market dynamics in the forthcoming years.

According to industry experts, the market is expected to expand considerably, recording a CAGR of XX% over the study period of 2020-2025.

Fluctuations in the demand and supply channels due to the strict lockdown measures enforced to address the COVID-19 pandemic has left several organizations in disarray. Speaking of the uncertainty of revenue in the near term, industries are expected to face challenges even once the economy arises from the pandemic. Given this, the document offers a comprehensive assessment of the numerous industry segments to help you understand the revenue prospects of the market amid COVID-19.

Request Sample Copy of this Report @ https://www.nwdiamondnotes.com/request-sample/111568

Key inclusions of the DNA Testing/Diagnostics market report:

DNA Testing/Diagnostics Market segments covered in the report:

Regional analysis: North America, Europe, Asia-Pacific, South America and Middle East and Africa

Product spectrum: PCR-Based Diagnostics , ISH Diagnostics and NGS DNA Diagnosis

Projected market share of each segment with respect to the sales and revenue.

Applications arena: Hospital , Medical Research and Pharmacogenomics Diagnostic Testing

Competitive terrain:

Key questions answered in the report:

What is the growth potential of the DNA Testing/Diagnostics market?

Which product segment will grab a lions share?

Which regional market will emerge as a frontrunner in coming years?

Which application segment will grow at a robust rate?

What are the key challenges that the global DNA Testing/Diagnostics market may face in future?

Which are the leading companies in the global DNA Testing/Diagnostics market?

Which are the key trends positively impacting the market growth?

Which are the growth strategies considered by the players to sustain hold in the global DNA Testing/Diagnostics market?

Request Customization on This Report @ https://www.nwdiamondnotes.com/request-for-customization/111568

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DNA Testing/Diagnostics Market 2021 with Top Countries Data Analysis by Industry Trends, Size, Share, Company Overview, Growth, Development and...

AccessDX Holdings, which develops an array of lab diagnostics and decision support tools, announced this week that it has acquired 2bPrecise from Allscripts.

WHY IT MATTERS2bPrecise specializes in helping health systems advance precision medicine projects by aggregating genetic and genomic data from labs and clinical data from electronic health records and helping bring it into clinician workflows helping with faster diagnosis of for heritable conditions, and more efficient targeting of personalized treatment plans.

Its addition to the AccessDX portfolio which includes the MedTek21 platform for diagnostic-based CDS will help provider and other customers as they establish, build and advance precision medicine programs.

THE LARGER TRENDClinical integration of genetics and genomics is advancing across an array of specialties not just oncology and cardiology but neonatology, pediatrics and behavioral health. But easy access to that data within the EHR is essential to gaining clinician buy-in and enabling precision insights for improved patient outcomes.

Still many smaller providers think precision medicine is beyond their means. That's not true, however. In interviews with Healthcare IT News, 2bPrecise co-founder and Chief Medical Officer Dr. Joel Diamond has said that pharmacogenomics is one logical entry point.

At HIMSS21 earlier this month, UPMC CMIO Dr. Robert Bart said he shared that sentiment.

"In the pharmacogenomics space, there's opportunity for all levels of healthcare systems to be involved," he said predicting that that precision med discipline would soon "filter down and become the standard of care."

He added: "One of the reasons I'm so high on pharmacogenomics is that there can be a big benefit on medication adherence.

"There's a nice opportunity where the payers are aligned, because they feel there's financial benefit in healthcare. The clinical side is aligned, because they feel that they can get better therapy and therapeutic treatment for the patient. And the patients are aligned because they want the right medication at the right dose for them personally."

ON THE RECORD"We're thrilled to welcome the 2bPrecise team and platform as we execute on our combined vision for democratizing the use, interpretation and delivery of advanced diagnostic solutions at the point of care," said Joe Spinelli, SVP of Product & Strategy for AccessDX. "Combined, our worldwide organization will be able to accelerate the pace of innovation and best serve the needs of healthcare organizations that continue to expand their adoption of actionable precision medicine solutions."

"AccessDX is a genuine leader in genomic information management. Our collective capabilities will serve as a force multiplier for the practical utilization of precision medicine," said Assaf Halevy, founder and CEO of 2bPrecise. "With a unified mission to drive dimensional change in healthcare, the combined talents and energy of 2bPrecise and AccessDX will compound acceleration in delivering on our vision of intelligent, personalized care for the good of healthcare organizations and the patients they serve."

Twitter:@MikeMiliardHITNEmail the writer:mike.miliard@himssmedia.comHealthcare IT News is a HIMSS publication.

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2bPrecise acquired from Allscripts by AccessDX - Healthcare IT News

Foundation Medicine this week announced a new partnership with Epic to integrate its genomic profiling and testing services into its electronic health system.

WHY IT MATTERSCambridge, Massachusetts-based Foundation Medicine offers a suite of genomic profiling assays to identify the molecular alterations of patients' cancers and match them with targeted therapies and clinical trials. With this new collaboration customers will be able to electronically order Foundation tests within the Epic network, directly within the EHR.

The collaboration is aimed at oncology practices, hospitals, academic medical centers and health systems, to enable easy access to clinical and genomic information for more streamlined clinical decision support.

With the new integration, clinical teams can place orders for Foundation's comprehensive genomic profiling tests and receive and view results within their existing EHR workflow. The aim is to also reduce data entry while offering faster actionable insights to help physicians guide treatment planning.

The integration is expected to be available in 2022. Foundation Medicine says it is also partnering with organizations using non-Epic EHRs to meet their own oncology needs.

THE LARGER TRENDThis isn't the only news this week about genomics-focused precision decision support. On Wednesday, AccessDX Holdings, developer of lab diagnostics and CDS tools, announced its acquisition of 2bPrecise which helps health systems advance precision medicine by aggregating genomics from labs and clinical information from EHRs from Allscripts.

Earlier this month, in an interview with Healthcare IT News at HIMSS21, Dr. Robert Bart, chief medical information officer at Pittsburgh-based UPMC, highlighted the necessity of digitized discrete data, integrated into EHR workflows, for precision medicine to work.

"We really think that, when you're moving into the world of pharmacogenomics or genomic medicine, that you really need to embed decision support into your electronic health record," he said.

"And you have to really insist on taking the results only in digital format. So if we get external results from reference labs, we don't want PDFs. We want to actually discrete data, so we can trigger the decision support, as well as provide supporting content for interpretation by our clinicians and the content so the patient can understand what that result means for them."

ON THE RECORD"In order to bring the reality of precision medicine to more cancer patients, we need to simplify the process for getting oncologists access to the genomic insights they need for targeted treatment planning," said Kathleen Kaa, interim chief commercial officer at Foundation Medicine, in a statement about the new Epic integrations. She called it "one of our key efforts to improve the process for ordering our tests so care teams can focus on providing the best treatment for their patients."

Twitter:@MikeMiliardHITNEmail the writer:mike.miliard@himssmedia.comHealthcare IT News is a HIMSS publication.

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Foundation Medicine, Epic collaboration focuses on genomics for precision oncology - Healthcare IT News

Someday there will be an app on your smartphone that knows exactly what medicine will work best for you. It will warn you of your risk for developing certain diseases and offer a personalized plan for preventing them. It will even be able to determine your likelihood of passing on certain conditions to your unborn baby. Ultimately, it will increase your lifespan and help you enjoy a higher quality of life.

This will all be possible because of one thing: genomics.

To understand genomics, you first have to understand thedifference between genes and genomes.

Genomicsis the study of genomes specifically how your DNA functions and interacts within your body. Through genomics, scientists and researchers have sought to better understand how a persons genes interact with each other and with their environment.

Precision genomicstakes this one step further. Using genomic information, doctors can create more personalized healthcare options for individuals battling illness and disease.

Human beings are more alike than they are different. In fact,research showsthat humans are 99.9 percent identical in their genetic makeup. Understanding the remaining 0.1 percent holds the clues about detecting and preventing certain diseases.Thats where genomics comes in.

Genetic testing looks for inherited mutations in healthy cells.Genomic sequencinglooks at genetic mutations in unhealthy cells.Heres why that matters for your health:

In the past, if you were diagnosed with cancer, your doctor would most likely recommend a standard form of treatment that worked for most people. But these days, healthcare providers can provide acustom-fit treatmentthats based on your specific DNA. They do this by identifying mutations in certain cells.

Dr. Lincoln Nadauld,chief of precision health and academics at Intermountain Healthcare, put it simply. [Precision genomics] means picking treatments for patients with cancer based on DNA changes in their cancer, he says.

And having more effective, personalized treatment plans means:

Genomics also helps identify certain health risks because these factors play a role in nine out of 10 of theleading causes of death.Knowing youre at risk for diabetes or heart disease could help you take steps to prevent their onset.

Genomic medicine is changing the way doctors approach individualized patient care particularly in the fields of oncology, pharmacology, and rare or genetic diseases.

1.Cancer treatment.Precision genomics improves cancer treatment by providing moretargeted therapiesthat are personalized to each patient.

Intermountain has long been recognized for its role in leading cancer research. By collaborating with other institutions and sharing data, doctors are learning how to best treat cancer. And now Intermountain is leading the charge in precision genomics research.

Through a variety of clinical trials, researchers study how different cancers respond to combinations of targeted treatment and immunotherapy (treatments that stimulate a persons immune system to fight cancer).

2. Matching medication.If youve ever been concerned about the potential side effects of certain medications, pharmacogenomics can help.

Pharmacogenomicsis the study of how genes can affect a persons response to medication. By studying your DNA, doctors can discover which drugs are most likely to work for you and what dosage your body might need. (This includes antidepressants, opioid pain relievers, heart medications, anti-inflammatories, antidiabetics, medications used before and after surgery, and more.) This process is called RxMatch testing. Pinpointing which drugs would be most effective for patients reduces the likelihood of negative side effects and repeat doctor visits.

3. Genetic counseling.Worried that cancer might run in your family? Want to know your chances of passing on conditions to your children?A genetic counselorcan assess your family history and genetic test results to determine if youre at risk of developing certain health conditions.

The National Society of Genetic Counselorssuggests the following as good reasons to see a genetic counselor:

The ultimate goal with each of these is to help patients live longer and better lives. The more you understand about your DNA, the better your chances for a high-quality life.

To see genomics in action, consider one Intermountainpatients story.

In 2013, Telitha Greiner had a colonoscopy that revealed cancer spread to her liver and lungs. A friend suggested she travel to St. George to see Dr. Nadauld, whose focus was extending the lives and quality of life for stage four cancer patients.

The genetic testing done by Dr. Nadauld revealed that one of the cancer drugs I was taking that had particularly painful side effects was not genetically effective, Greiner says. It wasnt doing me any good and caused a very painful skin condition. I am so grateful to know that I dont have to take it anymore and for the state-of-the-art care I am receiving at Intermountain.

Like Greiner, many patients have benefited fromIntermountain Precision Genomics.Its state-of-the-artTheraMap testoffers genetic testing for patients who havent found success with traditional treatment options.

For Nadauld, each individual patient serves as a reminder of how important this research is.

Though a lot of good has come from genetic research, theres still much work to be done. With further research prediction, prevention, and treatment can improve much faster. Thats where you have an opportunity to make a difference.

In order to discover new connections betweengeneticsand human disease, doctors and researchers are asking people to participate in theHerediGene: Population Study.This study is asking for 500,000 participants, including 50,000 children, over the course of five years.

Last year, Dr. Nadauld addressed the importance of HerediGene participation in a podcast episode ofThanks for Asking.

Theres extraordinary interest in this, primarily because it offers the opportunity to understand populations better and to start to predict the health across entire populations, he says. What that means is we could start to predict individuals in a population who might be at risk to get some forms of cancer or other individuals who might be at risk to have a heart attack or a stroke or to develop diabetes. And if we can predict that, then maybe we can work with those individuals to prevent some of those things from happening.

HerediGene participants are helping us piece together clues that will help doctors save lives and that could include your own.

If youre interested in furthering genetic research and benefiting future generations,find a participating location near you.No appointment is necessary. Participation is voluntary and provided at no cost to you.

Genomics is changing the way doctors practice medicine and treat disease. In the coming years, many more people will have access to targeted therapies and medicine designed specifically for them.

But healthcare is not one-size-fits-all. Finding the best healthcare solution for you or your loved ones requires open and honest conversations with your doctor.

If you think precision medicine could be right for you, here are a few suggestedtips for talking with your healthcare provider:

If you have questions or youre interested in learning more,visit the Intermountain Precision Genomics page for patients.

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Healthcare's future resides in genetic research and genomic testing - Utah Business - Utah Business