scholarly journals Patient access to gene therapy medicinal products: a comprehensive review

2020 ◽  
Vol 7 (1) ◽  
pp. 123-134
Author(s):  
Marta Carvalho ◽  
Bruno Sepodes ◽  
Ana Paula Martins
Keyword(s):  
Social Factors ◽  
Systematic Approach ◽  
Healthcare Professionals ◽  
Genetic Diseases ◽  
Patient Access ◽  
Medicinal Products ◽  
Gene Therapies ◽  
Potential Patient ◽  
Trial Outcomes ◽  
Evidence Generation

BackgroundGene therapies have the potential to be a curative approach to a large number of genetic diseases. However, granting of a positive marketing authorisation does not equal patient access to therapy.ObjectivesThe purpose of this paper is to identify a full set of hurdles potentially preventing patient access to gene therapies based on the available literature.MethodsA review of the literature using systematic approach in two distinct databases was performed by identifying relevant, peer-reviewed publications, between 2012 and 2018.ResultsSeven major topics were identified as potential patient access hurdles, namely affordability, assessment of value, development of therapy, ethical/social factors, evidence generation, operational implementation and regulatory hurdles. From these, 25 additional subthemes were further identified. The most frequently mentioned obstacle in the literature is related to the affordability aspect especially focusing on high cost of therapy (84%) and therapy payment/reimbursement (51%). Importantly, the evidence generation focusing on limited trial outcomes (81%) seems as a strong obstacle in patient access to these therapies.ConclusionsA growing number of gene therapies are expected to be developed and made available to patients and healthcare professionals. Improvement of patient access to gene therapies can only be achieved by understanding all hurdles, in a complete and integrated fashion, so that strategies are timely established to ensure gene therapies’ benefits are provided to patients and to the society.

scholarly journals Consent in pregnancy - an observational study of ante-natal care in the context of Montgomery: all about risk?

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Jacqueline A. Nicholls ◽  
Anna L. David ◽  
Joseph Iskaros ◽  
Dimitrios Siassakos ◽  
Anne Lanceley
Keyword(s):  
Qualitative Research ◽  
Observational Study ◽  
Pregnant Women ◽  
Social Factors ◽  
Healthcare Professionals ◽  
Effective Interaction ◽  
Clinical Decision ◽  
Place Of Birth ◽  
Clinical Risk ◽  
In Pregnancy

Abstract Background How to best support pregnant women in making truly autonomous decisions which accord with current consent law is poorly understood and problematic for them and their healthcare professionals. This observational study examined a range of ante-natal consultations where consent for an intervention took place to determine key themes during the encounter. Methods Qualitative research in a large urban teaching hospital in London. Sixteen consultations between pregnant women and their healthcare professionals (nine obstetricians and three midwives) where ante-natal interventions were discussed and consent was documented were directly observed. Data were collectively analysed to identify key themes characterising the consent process. Results Four themes were identified: 1) Clinical framing - by framing the consultation in terms of the clinical decision to be made HCPs miss the opportunity to assess what really matters to a pregnant woman. For many women the opportunity to feel that their previous experiences had been ‘heard’ was an important but sometimes neglected prelude to the ensuing consultation; 2) Clinical risk dominated narrative - all consultations were dominated by information related to risk; discussion of reasonable alternatives was not always observed and women’s understanding of information was seldom verified making compliance with current law questionable; 3) Parallel narrative - woman-centred experience – for pregnant women social factors such as the place of birth and partner influences were as or more important than considerations of clinical risk yet were often missed by HCPs; 4) Cross cutting narrative - genuine dialogue - we observed variably effective interaction between the clinical (2) and patient (3) narratives influenced by trust and empathy and explicit empowering language by HCPs. Conclusion We found that ante-natal consultations that include consent for interventions are dominated by clinical framing and risk, and explore the woman-centred narrative less well. Current UK law requires consent consultations to include explicit effort to gauge a woman’s preferences and values, yet consultations seem to fail to achieve such understanding. At the very least, consultations may be improved by the addition of opening questions along the lines of ‘what matters to you most?’

scholarly journals The Ocular Gene Delivery Landscape

Biomolecules ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. 1135
Author(s):  
Bhubanananda Sahu ◽  
Isha Chug ◽  
Hemant Khanna
Keyword(s):  
Gene Therapy ◽  
Genetic Diseases ◽  
Gene Therapies ◽  
Advantages And Disadvantages ◽  
Fda Approval ◽  
New Information ◽  
Efficient Delivery ◽  
Delivery Routes ◽  
History Of ◽  
Different Parts

The eye is at the forefront of developing therapies for genetic diseases. With the FDA approval of the first gene-therapy drug for a form of congenital blindness, numerous studies have been initiated to develop gene therapies for other forms of eye diseases. These examinations have revealed new information about the benefits as well as restrictions to using drug-delivery routes to the different parts of the eye. In this article, we will discuss a brief history of gene therapy and its importance to the eye and ocular delivery landscape that is currently being investigated, and provide insights into their advantages and disadvantages. Efficient delivery routes and vehicle are crucial for an effective, safe, and longer-lasting therapy.

scholarly journals Radiological Reporting of Urgencies Related to Medical Devices: Commentary on a Possible Systematic Approach

Tomography ◽  
2021 ◽  
Vol 7 (3) ◽  
pp. 268-277
Author(s):  
Andrea Contegiacomo ◽  
Marco Conti ◽  
Massimo Muciaccia ◽  
Pietro Trombatore ◽  
Michele Dezio ◽  
...  
Keyword(s):  
Emergency Department ◽  
Medical Devices ◽  
Clinical Management ◽  
Systematic Approach ◽  
Patient Access ◽  
Radiological Images ◽  
Radiological Report

Most medical devices are routinely recognized on radiological images and described as normal findings in the radiological report, but sometimes they can cause patient access to the emergency department. Multiple possible complications have been described and most of them require prompt recognition by radiologists for proper clinical management. This commentary proposes a systematic approach to radiological reporting of the most common emergent complications related to medical devices with the intent to avoid the omission of important findings in the final radiological report.

scholarly journals PBI47 Innovative Approaches for Patient Access to Gene Therapies in Haemophilia

2020 ◽  
Vol 23 ◽  
pp. S418
Author(s):  
P. Ermacora ◽  
D. Meszarosova ◽  
A.D. Ong ◽  
D. Carr
Keyword(s):  
Patient Access ◽  
Gene Therapies ◽  
Innovative Approaches

Shoulder examination: a systematic approach

2021 ◽  
pp. 1-15
Author(s):  
Akib M Khan ◽  
Angelos Assiotis ◽  
Mazin S Ibrahim ◽  
Andrew R Sankey
Keyword(s):  
Rotator Cuff ◽  
Systematic Approach ◽  
Healthcare Professionals ◽  
Full Range ◽  
Range Of Movement ◽  
Systematic Examination ◽  
Complex Joint ◽  
Different Levels ◽  
Shoulder Examination

The shoulder is a complex joint with static and dynamic stabilising structures working synchronously. These allow a full range of movement while preserving stability of the joint. Patients may present with pain, stiffness, weakness, deformity or instability. The authors suggest a systematic examination sequence to ensure that important pathology is not overlooked. Adopting this approach allows common pathologies, including tears of the rotator cuff, impingement and tendinopathy, to be easily identified. This shoulder examination sequence may be used by all healthcare professionals and can also act as a revision aid for those undergoing exams in this field, at different levels of training.

scholarly journals Autonomous decisions by couples in reproductive care

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Amal Matar ◽  
Anna T. Höglund ◽  
Pär Segerdahl ◽  
Ulrik Kihlbom
Keyword(s):  
Healthcare Professionals ◽  
Genetic Diseases ◽  
Reproductive Technologies ◽  
Individual Autonomy ◽  
Carrier Status ◽  
Final Decision ◽  
Joint Decision ◽  
Ethical Rationale ◽  
Autosomal Recessive Diseases ◽  
Preconception Expanded Carrier Screening

Abstract Background Preconception Expanded Carrier Screening (ECS) is a genetic test offered to a general population or to couples who have no known risk of recessive and X-linked genetic diseases and are interested in becoming parents. A test may screen for carrier status of several autosomal recessive diseases at one go. Such a program has been piloted in the Netherlands and may become a reality in more European countries in the future. The ethical rationale for such tests is that they enhance reproductive autonomy. The dominant conception of autonomy is individual-based. However, at the clinic, people deciding on preconception ECS will be counselled together and are expected to make a joint decision, as a couple. The aim of the present study was to develop an understanding of autonomous decisions made by couples in the context of reproductive technologies in general and of preconception ECS in particular. Further, to shed light on what occurs in reproductive clinics and suggest concrete implications for healthcare professionals. Main text Based on the shift in emphasis from individual autonomy to relational autonomy, a notion of couple autonomy was suggested and some features of this concept were outlined. First, that both partners are individually autonomous and that the decision is reached through a communicative process. In this process each partner should feel free to express his or her concerns and preferences, so no one partner dominates the discussion. Further, there should be adequate time for the couple to negotiate possible differences and conclude that the decision is right for them. The final decision should be reached through consensus of both partners without coercion, manipulation or miscommunication. Through concrete examples, the suggested notion of couple autonomy was applied to diverse clinical situations. Conclusions A notion of couple autonomy can be fruitful for healthcare professionals by structuring their attention to and support of a couple who is required to make an autonomous joint decision concerning preconception ECS. A normative implication for healthcare staff is to allow the necessary time for decision-making and to promote a dialogue that can increase the power of the weaker part in a relationship.

scholarly journals Estimating the Financial Impact of Gene Therapy*

2020 ◽  
Author(s):  
Chi Heem Wong ◽  
Dexin Li ◽  
Nina Wang ◽  
Jonathan Gruber ◽  
Rena Conti ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Time Horizon ◽  
Financial Impact ◽  
Age Group ◽  
Patient Access ◽  
Quality Adjusted Life Years ◽  
Gene Therapies ◽  
Life Years ◽  
Expected Benefits ◽  
Quality Adjusted Life

AbstractWe assess the potential financial impact of future gene therapies by identifying the 109 late-stage gene therapy clinical trials currently underway, estimating the prevalence and incidence of their corresponding diseases, developing novel mathematical models of the increase in quality-adjusted life years for each approved gene therapy, and simulating the launch prices and the expected spending of these therapies over a 15-year time horizon. The results of our simulation suggest that an expected total of 1.09 million patients will be treated by gene therapy from January 2020 to December 2034. The expected peak annual spending on these therapies is $25.3 billion, and the total spending from January 2020 to December 2034 is $306 billion. We decompose their annual estimated spending by treated age group as a proxy for U.S. insurance type, and consider the tradeoffs of various methods of payment for these therapies to ensure patient access to their expected benefits.

Genetic Disease and Therapy

2021 ◽  
Vol 16 (1) ◽  
pp. 145-166
Author(s):  
Theodore L. Roth ◽  
Alexander Marson
Keyword(s):  
Dna Sequences ◽  
Current Practice ◽  
Genetic Diseases ◽  
Genetic Material ◽  
Nuclear Genome ◽  
Genetic Alterations ◽  
Genetic Diagnostics ◽  
Gene Therapies ◽  
Disease Risks ◽  
Diagnosis Therapy

Genetic diseases cause numerous complex and intractable pathologies. DNA sequences encoding each human's complexity and many disease risks are contained in the mitochondrial genome, nuclear genome, and microbial metagenome. Diagnosis of these diseases has unified around applications of next-generation DNA sequencing. However, translating specific genetic diagnoses into targeted genetic therapies remains a central goal. To date, genetic therapies have fallen into three broad categories: bulk replacement of affected genetic compartments with a new exogenous genome, nontargeted addition of exogenous genetic material to compensate for genetic errors, and most recently, direct correction of causative genetic alterations using gene editing. Generalized methods of diagnosis, therapy, and reagent delivery into each genetic compartment will accelerate the next generations of curative genetic therapies. We discuss the structure and variability of the mitochondrial, nuclear, and microbial metagenomic compartments, as well as the historical development and current practice of genetic diagnostics and gene therapies targeting each compartment.

Challenges faced by nurses in complying with aseptic non-touch technique principles during wound care: a review

2020 ◽  
Vol 29 (5) ◽  
pp. S28-S35 ◽  
Author(s):  
Temi Sonoiki ◽  
Julie Young ◽  
Obrey Alexis
Keyword(s):  
Systematic Approach ◽  
Healthcare Professionals ◽  
Wound Care ◽  
Integrated Approach ◽  
Nurse Education ◽  
Wound Management ◽  
Inclusion Criteria ◽  
Healthcare Associated Infection ◽  
Wound Site ◽  
Healthcare Associated

Background: Surgical and wound site infections (SWSIs) are the second most frequent type of healthcare-associated Infection. One way of preventing SWSIs is by adhering to the principles of asepsis. However, many nurses struggle to apply the principles of aseptic non-touch technique (ANTT) during wound management. Aim: To identify the barriers and enablers that influence nurses' adherence to the principles of ANTT during wound care. Method: A literature search using a systematic approach was carried out. Four databases were searched to identify relevant studies published between January 1993 and December 2018. Titles and abstracts were reviewed. Studies that met the inclusion criteria were reviewed for quality. The extracted data were then synthesised. Findings: A total of seven studies fulfilled the requirements for inclusion. Three themes emerged and were found to be the most dominant factors influencing adherence to the principles of ANTT: material and resources, nurse education, and nurses' behaviour. Conclusion: Nurses' compliance with aseptic practice is directly influenced by environmental and psychological factors. Ensuring compliance to ANTT may require an integrated approach involving local, national and worldwide organisations, in collaboration with higher education institutions that teach nurses and similar healthcare professionals.

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