The evolution of public health genomics: Exploring its past, present, and future

Public health genomics has evolved to responsibly integrate advancements in genomics into the fields of personalized medicine and public health. Appropriate, effective and sustainable integration of genomics into healthcare requires an organized approach. This paper outlines the history that led to the emergence of public health genomics as a distinguishable field. In addition, a range of activities are described that illustrate how genomics can be incorporated into public health practice. Finally, it presents the evolution of public health genomics into the new era of “precision public health.

Healthcare system priorities for successful integration of genomics: An Australian focus

This paper examines key considerations for the successful integration of genomic technologies into healthcare systems. All healthcare systems strive to introduce new technologies that are effective and affordable, but genomics offers particular challenges, given the rapid evolution of the technology. In this context we frame internationally relevant discussion points relating to effective and sustainable implementation of genomic testing within the strategic priority areas of the recently endorsed Australian National Health Genomics Policy Framework. The priority areas are services, data, workforce, finances, and person-centred care. In addition, we outline recommendations from a government perspective through the lens of the Australian health system, and argue that resources should be allocated not to just genomic testing alone, but across the five strategic priority areas for full effectiveness

Enabling global clinical collaborations on identifiable patient data: The Minerva Initiative

The clinical utility of computational phenotyping for both genetic and rare diseases is increasingly appreciated; however, its true potential is yet to be fully realized. Alongside the growing clinical and research availability of sequencing technologies, precise deep and scalable phenotyping is required to serve unmet need in genetic and rare diseases. To improve the lives of individuals affected with rare diseases through deep phenotyping, global big data interrogation is necessary to aid our understanding of disease biology, assist diagnosis, and develop targeted treatment strategies. This includes the application of cutting-edge machine learning methods to image data. As with most digital tools employed in health care, there are ethical and data governance challenges associated with using identifiable personal image data. There are also risks with failing to deliver on the patient benefits of these new technologies, the biggest of which is posed by data siloing. The Minerva Initiative has been designed to enable the public good of deep phenotyping while mitigating these ethical risks. Its open structure, enabling collaboration and data sharing between individuals, clinicians, researchers and private enterprise, is key for delivering precision public health

Scanning electron microscopy of the penetration of newborn mouse skin by Strongyloides ratti and Ancylostoma caninum larvae

Southeast Asian Journal of Tropical Medicine and Public Health112212-219SJTM

Editorial: Precision Public Health

Traditional public health practice has had a central reliance on data, and the core discipline of epidemiology, in order to inform health policy and priority setting, drive health improvement across whole populations, and target disadvantaged populations. Core public health activities include risk factor and disease surveillance, screening, development of interventions, assurance, and evaluation. Since the 1970s, New Public Health has also emphasized community engagement, health promotion, partnerships, and advocacy. In the last 20 years, and particularly with the sequencing of the human genome and advances in other “-omics,” informatics and a range of technologies, new possibilities have opened up for a much more finely delineated view of the “time-person-place” triad that underpins epidemiology, and the balancing of genetic, biological, environmental, and social determinants of disease. This may lead, we argue in this article, to new preventive and treatment options and the next paradigm shift in public health, namely toward “Precision Public Health” or PPH. However, we also caution against a blind optimism about what technology can achieve on its own, and argue for a solid grounding of PPH on the old verities of public health, namely whole population health improvement and equity

Experimental evolution of parasite life-history traits in Strongyloides ratti (Nematoda)

Evolutionary ecology predicts that parasite life-history traits, including a parasite's survivorship and fecundity within a host, will evolve in response to selection and that their evolution will be constrained by trade-offs between traits. Here, we test these predictions using a nematode parasite of rats, Strongyloides ratti, as a model. We performed a selection experiment by passage of parasite progeny from either early in an infection (‘fast’ lines) or late in an infection (‘slow’ lines). We found that parasite fecundity responded to selection but that parasite survivorship did not. We found a trade-off mediated via conspecific density-dependent constraints; namely, that fast lines exhibit higher density-independent fecundity than slow lines, but fast lines suffered greater reduction in fecundity in the presence of density-dependent constraints than slow lines. We also found that slow lines both stimulate a higher level of IgG1, which is a marker for a Th2-type immune response, and show less of a reduction in fecundity in response to IgG1 levels than for fast lines. Our results confirm the general prediction that parasite life-history traits can evolve in response to selection and indicate that such evolutionary responses may have significant implications for the epidemiology of infectious disease

Cloning of a unique sequence specific to isolates of type B:2 Pasteurella multocida

Two Carter type B Pasteurella multocida isolates, Izatnagar 52 and 25, isolated from cases of haemorrhagic septicaemia (HS), were used in a modified subtractive hybridisation technique with the specific aim of cloning unique DNA sequences related to the pathogenesis of HS. Biochemical and protein analyses have shown these isolates to be similar, but reports indicate that they have differences in pathogenicity. The subtracted inserts were screened against genomic DNA from a wide range of P multocida isolates, with two distinct fragments demonstrating specific hybridisation with Carter type B isolates that cause HS. No identity was observed with either Carter type E isolates or non-HS type B strains. The clones were sequenced and a search of the GenBank database revealed significant identity of the clone A3b (296 nt) to P haemolytica lipoprotein, whereas there was no significant identity with 6b (956 nt). Both these fragments had a high level of identity (72·8 to 76·9 per cent) to the H infuenzae Rd genome

Risk assessment of axillary lymph node metastases in early breast cancer patients using the maximum entropy network

Describes an artificial neural network (ANN) architecture for constructing maximum entropy (MaxEnt) models based on discrete distributions. Entropy is maximized by a partition function method involving the use of Lagrange multipliers which is capable of implementation by an ANN architecture. The maximum entropy network (MaxEN), consists of a training module and a testing module of interconnected processing elements. The practical use of the MaxEN network is illustrated with an application in the clinical management of early breast cancer patient

Urinary continence after radical retropubic prostatectomy. Analysis and synthesis of contributing factors: a unified concept

Objective  To assess the effects of three types of apical dissection on urinary continence after radical retropubic prostatectomy and to evaluate possible contributing factors, e.g. preservation of the bladder neck and preprostatic sphincter, age, anastomotic strictures, previous transurethral resection and nerve-sparing surgery. Patients and methods  Having undergone one of three types of apical dissection, 280 patients were evaluated: in Group 1 (sphincter-damaging) 134 patients underwent the original technique of ligating and transecting the venous complex; in Group 2 (sphincter-repairing), 76 patients had the venous complex with part of striated sphincter incorporated within anastomotic suture(s); and in Group 3 (sphincter-preserving), 70 patients had the venous complex alone ligated using the ‘bunching’ technique of Myers. The outcome was analysed for the number becoming continent and the time to continence. Results  Continence was achieved in 93% overall, with 90%, 93% and 99% achieving continence in Groups 1, 2 and 3, respectively. The mean time to continence was 68 days overall, taking 100, 52 and 30 days for the respective groups. Twenty patients (7%) did not achieve full continence; 15 had minor incontinence and five severe, with none of the latter being in Group 3. The group (preservation of external sphincter), age and freedom from development of anastomotic strictures were the most important factors both in regaining continence and decreasing the time to continence. Conclusions  Preservation of as much as possible of the normal anatomy of the sphincter mechanisms and their nerve supplies results in an excellent return to continence after radical retropubic prostatectomy