Patient-controlled encrypted genomic data: an approach to advance clinical genomics

<p>Abstract</p> <p>Background</p> <p>The revolution in DNA sequencing technologies over the past decade has made it feasible to sequence an individual’s whole genome at a relatively low cost. The potential value of the information generated by genomic technologies for medicine and society is enormous. However, in order for exome sequencing, and eventually whole genome sequencing, to be implemented clinically, a number of major challenges need to be overcome. For instance, obtaining meaningful informed-consent, managing incidental findings and the great volume of data generated (including multiple findings with uncertain clinical significance), re-interpreting the genomic data and providing additional counselling to patients as genetic knowledge evolves are issues that need to be addressed. It appears that medical genetics is shifting from the present “phenotype-first” medical model to a “data-first” model which leads to multiple complexities.</p> <p>Discussion</p> <p>This manuscript discusses the different challenges associated with integrating genomic technologies into clinical practice and describes a “phenotype-first” approach, namely, “Individualized Mutation-weighed Phenotype Search”, and its benefits. The proposed approach allows for a more efficient prioritization of the genes to be tested in a clinical lab based on both the patient’s phenotype and his/her entire genomic data. It simplifies “informed-consent” for clinical use of genomic technologies and helps to protect the patient’s autonomy and privacy. Overall, this approach could potentially render widespread use of genomic technologies, in the immediate future, practical, ethical and clinically useful.</p> <p>Summary</p> <p>The “Individualized Mutation-weighed Phenotype Search” approach allows for an incremental integration of genomic technologies into clinical practice. It ensures that we do not over-medicalize genomic data but, rather, continue our current medical model which is based on serving the patient’s concerns. Service should not be solely driven by technology but rather by the medical needs and the extent to which a technology can be safely and effectively utilized.</p

How to Succeed in Marketing Marine Natural Products for Nutraceutical, Pharmaceutical and Cosmeceutical Markets

The marine ecosystem shelters a vast number of macro- and microorganisms that have developed unique metabolic skills to survive in diverse and hostile habitats. These survival strategies often result in the biosynthesis of an array of secondary metabolites with specific activities and functions in the cellular context. Several metabolites can give origin to high-value commercial products for nutraceutical, pharmaceutical and cosmeceutical markets, among others. This chapter outlines those industries’ paths for marketing marine natural products (MNPs), from discovery and development up to final product marketing. Focus is given on compounds that successfully reached the market and, particularly, the approaches employed by the nutraceutical, pharmaceutical and cosmeceutical companies that succeeded in marketing those products. Some key failures in each market segment are analysed, allowing lessons to be learned and key hurdles to be avoided in MNP development. The main challenges faced during MNP programs are assessed and mapped in the market funnel of common product development routes. Suggestions to surpass these challenges are provided, in order to improve market entry success rates of highly promising marine bioactives in current pipelines, highlighting what can be applied to novel and/or ongoing MNP development programs.info:eu-repo/semantics/publishedVersio