Editorial 1 : Genome-sequencing screening for babies unlocks blueprint of health
Context
Newborn screening programmes are now in vogue in different countries, and have been deployed in India as well. They are based on the fact that an early diagnosis could allow use of effective treatments and save an infant from death or disability.
About
- There are 6,000 or so genetic diseases, of which around 3,500 diseases have been documented, and a much smaller number have had their molecular and/or genetic defects mapped.
- A significant number of diseases in the population are also treatable but are nevertheless prevalent.
- Newborn screening programmes now in vogue in different countries, and which have been deployed in some states in India as well, are based on the fact that an early diagnosis could allow us to use effective treatments and save an infant from death or disability.
- Then again, in many cases, they lose the window of opportunity because standard newborn-screening programmes are limited on the menu of genetic tests they cover.
- Thanks to recent advances, genomic-sequencing is now available, accessible, and in many ways more affordable.
- It also offers a much better coverage of genetic diseases to screen for.
- Importantly, this could help healthcare workers make a fast and effective diagnosis, helped by the fact that sequencing is also a ‘single’ test, versus the multitude of tests performed as part of routine newborn-screening.
It’s Importance
- The rarity of many genetic diseases, the narrow window of opportunity, the long diagnostic paths, and the unfortunate deaths of ill babies makes it very difficult to document and understand these diseases.
- However, population-scale genome-sequencing efforts have provided insights into the prevalence of many of these diseases in an unbiased manner.
- Discoveries in the past three decades have also allowed a small but significant number of diseases to be treated or managed effectively.
- This in turn opened up a newer opportunity: to diagnose and treat genetic diseases through genomic-sequencing in newborn babies, especially sick ones.
Screening healthy babies
- The benefits of sequencing may not just be limited to babies who are unwell.
- One recent study conducted by the project, and published in the American Journal of Human Genetics, evaluated the sequences of 127 apparently healthy and 32 sick infants.
- It found that just over 10% of infants had an unanticipated risk of genetic diseases.
- When these infants were followed up for three to five years, sequences revealed the causes of disease in three infants; in the remaining 14, a better picture of the risk made way for better medical surveillance.
- The sequencing also warranted additional at-risk family members of 13 infants to have their genes sequenced. Three of them benefited from subsequent surgeries.
Ethics and hope
- Newborn whole genome sequencing presents multiple ethical challenges.
- Such as the issue of disclosing and managing incidental and secondary findings raises concerns about privacy and the psychological impact on families.
- The equitable distribution of benefits and burdens associated with accessing and utilising this technology also invoke issues of justice and fairness .
Way forward
- As the vast potential of rapid newborn whole-genome sequencing unfolds, we stand at a crossroads of hope and introspection.
- There is no doubt that this technology will help clinicians with the means to detect rare genetic disorders, anticipate susceptibility to disease, and give them the evidence required to prescribe better treatments and shape a healthier future.
- Yet we must also tread carefully, considering the delicate balance between benefits and harm.
Editorial 2 : The master plan and the slaves
Context
Master Plans may not be the panacea. India must reimagine spatial planning to address the growing and emerging governance challenges of urbanisation.
About
- Amitabh Kant, India’s G20 Sherpa, stressed at a recent Urban-20 City Sherpas’ meet that a master plan is crucial for any city to manage urbanisation. There have been similar calls in the past.
- A master plan is an instrument of governance for urban local bodies (ULBs).
- It has recently received extensive attention in national policy discussions, and rightly so.
- The Ministry of Housing and Urban Affairs has recommended that master plans in cities should be revisited for the improved governance of cities.
- The National Mission for Clean Ganga has been advocating such a step to protect urban water bodies; yet, the idea has not advanced beyond exhortations.
- Much needs to be understood, for the scholarship on master plans is puzzlingly shallow.
Statutory and spatial
- The renewed focus on the concept of a master plan is to be welcomed. But few acknowledge its distinct status as the sole statutory instrument of governance.
- Many plans to improve sanitation, infrastructure and social inclusion are dependent on particular programmes, but these are at best ephemeral and incremental as they are centrally funded.
- The discourse tends to blur this distinction and, as a result, obscures the significance of the master plan as the instrument of governance.
An Archaic concept
A further complication is that the master plan is an archaic concept whose sales-pitch is more spectacular than its performance. There are at least four reasons for this.
First, the master plan instrument is dated.
- The concept, configuration and rationalities of this instrument as well as the institutional structures surrounding it are conceived by template legislations drafted in the 1950s. These were then replicated by States as laws of town planning.
- While this is a central legislation focused on industrial pollution, the legal and institutional frame of the master plan remained unchanged with its archaic conceptions of land development for urban service rationalities.
Second, a master plan is simply a spatial plan of land-use allocation supported by bye-laws and development control regulations. Thus, it essentially embodies a spatial vision for cities.
Third, this spatial vision is at the core of institutional structures, cultures and practices of ULBs.
- The edifice of urban governance is built around this spatial vision and provision of urban services.
- The ULBs are cultivated and shaped by the agenda of regulating spatial growth and remain slaves to these ideas and conceptions.
- As a result, the demands imposed on them by the new visions (of programmatic plans) suffer.
Fourth, the statutory and spatial nature of the master plan can pose constraints on the programmatic plans, especially the spatially associated ones such as the plans for protection of water bodies.
Most water-body related projects negotiate the challenges of encroachment of floodplains as encroachments in ex-post.
Reimagine spatial planning
- Urban planning in India must be reimagined urgently.
- First, we must acknowledge that the master plan instrument may be limited by its archaic conceptions and entrenched institutional cultures. To assume that it would serve the expanded scope of urban governance is far-fetched and can be self-defeating.
- Second, there is no need to go far for lessons to do this. Indian cities offer enough experiences to learn from. For instance, many States have tried supplementing the inadequacies of the master plan with innovative bye-laws. Much of this experimental and experiential understanding is, however, dispersed, and is restricted to the domain of praxis.
- Third, the incapacities in urban planning and governance highlighted by the 2021 report of the NITI Aayog must receive priority. And it should begin with an elevated attention to the spatial (town) planning profession and education.
Way forward
- The era of planetary urbanisation brings spatial planning into sharp focus, and calls for reimaging the spatial planning framework in India.
- Recent moves such as Gati Shakti and Model Rural Transformation Acts are a reflection of this growing demand. But these are too feeble, remote and limited.
- The Centre must work with the States to reconsider the spatial planning framework in India.
