It was written by Luke Parkes
introduction
NBS is an influential public health initiative that can diagnose the serious state of asymptomatic infants at birth. In general, NBS program It includes tests for metabolism and genetic conditions of selected numbers through protein expression, including additional target screening for family or inherited conditions. Community. New development of NB, which is currently being piloted in various countries (e.g.:: uk and USA) Is a genome screening through the entire genome sequencing (WGS). Newborn Genome Screening enables hundreds of rare and therapeutically defined conditions that require long diagnostic trips that delay intervention and often lead to irreversible clinical decrease.
However, in the case of many genetic conditions that genome NBS allows early diagnosis, interaction with Health Technology Assessment (HTA) is potentially complex and consequent. Including a genome status in the NBS program can affect the planning, evidence creation and economic modeling of the manufacturer.
We took into account the main impact on HTA from the point of view of the company’s submission and proposed measures that could be taken to prepare for changes due to the availability of genomic NBS.
Main meaning of HTA
Increasing heterogeneity of patient groups
Genetic disorders often differ greatly in seriousness and onset age. Genome NBS introduces additional volatility because the symptoms and asymptomatic cases of the disease are diagnosed. Therefore, the individual indicates a wider range of reference characteristics and severity. This heterogeneous population also meets other treatment eligibility criteria, which can add more complexity to the treatment path. Another consideration is that not all parents or guardians can agree with the genome NB, which can lead to later diagnosis and potential equality issues on approaches to new treatment.
The Company should deal with the entire spectrum of the patient who will be diagnosed with HTA evidence, and consider how to differ in the absence of NBS, and to clearly emphasize the position where the new treatment can solve the equality problem caused by the absorption rate of the population statistics group.
Changed natural history
Genome NBS can remove long diagnostic delays to enable early care and treatment of diagnosed state, and individuals who receive early treatment can improve clinical results. By avoiding diagnostic Odyssey and receiving early support and plans, the quality of life, including the burden of mental health, can also be improved to both patients and caregivers.
Companies must explore the effects of the large diagnosis of the baseline characteristics and explore the effects of health status distribution, treatment paths and subsequent prognosis. Market research or review of the subjects can help to clarify uncertainty.
Excessive risk of asymptomatic patients
Some conditions (for example, late -on -the -down pompe disease (LOPD)) can not predict seriousness and age with available test information. This means that the treatment decision must be made without clear prognosis indicators. In these situations, there is a risk of excessive treatment, which can increase the risk of treatment complications and reduce QOL without any advantages.
The Company may consider to offer start and/or stop rules to avoid excessive treatment and offset potential increased costs due to longer treatment. Such measures will improve cost efficiency and adjust the budget impact.
Improvement of the efficacy of new treatment
Initial treatment with new treatments can improve long -term results and reduce overall medical costs. This is especially related when new treatment can prevent irreversible clinical decrease and provide persistent/long -term stability. However, proving these benefits in submission of HTA can be difficult due to limited data.
Clear strategies and support stories should be developed in areas such as early disease treatment benefits and improvement of QOL by treatment (see below).
Worsening data
Clinical trial data for patients who are treated asymptomatic until the NBS is well established and widely used may be limited. Therefore, it will be difficult to estimate parameters such as disease progression or stability. The HTA agency adopts flexibility to evidence requirements for rare diseases. Nevertheless, if the data of the asymptomatic people cannot be captured, there may be restrictions on HTA approval or rejection of early treatment benefits.
The deportation and actual evidence of structured experts (if not asymptomatic) is important for solving the data gap and reducing uncertainty.
conclusion
NBS-WGS will adopt it and change the diagnosis and management of rare disease in countries that can affect the HTA of new orphans in the next 10 years.
Ultimately, avoiding long -term diagnostic delays and early interventions, especially when treatment effectively stops or slow the disease progression, infertility with certain genes or metabolic conditions that may not be diagnosed until the symptoms appear. Unfortunately, this suggests a lot of data problems because this is not captured in the change in clinical treatment that can be provided by the genomic NB. Initial plans will be important to characterize uncertainty of the effects of genomic NBS. This is because data requirements and approaches are clarified for participation with the HTA body. If possible, it is necessary to present evidence of patients who are treated or diagnosed asymmetrically, which can be used in an early access system or registry.
If you want to know more about HTA submission (including systematic review, health economy modeling, and medical writing), please contact Source Health Economics, a heror consulting that specializes in creating evidence, health economy and communication.
