Abstract
Scientific and technological developments are unquestionable, being health in general and human genetics specifically, domains where high throughputs are gorgeous. The internet is changing the behavior of patients with clinicians and health organizations. The project of human genomes ensured new approaches to estimate cause-disease relations. Genotype-phenotype correlations and screening of mutation are now available to all researchers. However, the scientific data are also available to the patients, bringing them to the floor as active partners in therapeutic processes searching with ”Dr. Google” for symptoms, treatments, and cures. Hereditary deafness is not escaping from this civil movement, being a good example of the behavioral change associated with the explosion of the internet, with the commercial offers of hearing aids and cochlear implants offers to be common nowadays. In the chapter, the authors discuss the internet of behaviors in the context of biomedical sciences as human genetics, and hearing loss.
TopIntroduction
Biomedical and Health sciences are a domain of science where innovations have a direct impact on improving the wellbeing and disease management of patients, being impressive the number of scientific papers published every day in common scientific databases.
These areas have developed in parallel with other areas of a technological nature, and today there is a clear advance in terms of diagnosis associated with better equipment and better software. All these advances have contributed to the development of research and clinical support tools with high potential in supporting the improvement of health care. None of this is independent of the free online availability of scientific outputs.
Genetic diseases are good examples of conditions where the advances of the internet have changed the behaviour of patients who become aware of the scientific innovations regarding disease etiology, new treatments, and also the possibility to improve communication between people suffering from the same situation. Most of the persons with hearing loss present a genetic condition, thus this particular situation is a good study case for the behavioural changes associated with the internet revolution in health and biomedical sciences.
In the present paper, we also explore the relation of Portuguese hearing loss persons with the internet as a tool to learn about the genetic condition in general and deafness specifically.
Biomedical and Health Sciences and Internet
Considering the technical and scientific advances in Science in general and Biomedical Sciences in particular, is easy to understand that healthcare has also benefited from these advances mobilizing them to the relation with patients. Internet and all the digital tools increase the way researchers share innovations and mobilize them to the general public.
Scientific communications were in the hands of researchers who published their results in specialized scientific journals or presented their results at specialized congresses. These outputs were intended for colleagues, health professionals, and researchers in general. Patients and their families, as well as citizens in general, had little access to these articles and, above all, had difficulty understanding scientific jargon. This led to the Media, namely TV, and magazines general citizens assuming a role in the approximation between layperson and science (Iyengar et al., 2018). Currently, there is a notable effort on the part of researchers in the field of science communication, with many institutions having organizational structures specialized in sharing scientific results, directly contributing to decreasing the gap between scientific outputs and general citizens. Once again, none of this is independent of the online availability of scientific innovations and findings.
The Internet is a powerful information equalizer that radically transformed the way people identify and access relevant information for them and at some time brought a revolution to the spread of scientific results to all areas of society. The high point for online searches is focused on health issues, with most people already looking for information online about signs and symptoms, causes of diseases, diagnoses, and nutritional aspects (Lee, K et al., 2017), reaching 87% of the individuals between 14 and 22 years old in the USA (Ennis-O’Connor, 2018) with similar results for EU/UK citizens (Lee, K. et al., 2017).
Biomedical and Health sciences face today a huge advance in terms of diagnosis that is associated with the free availability of scientific outputs online. The rigor of scientific information continues to be guaranteed by scientific publications that currently follow an open-access policy, in the vast majority. Free access to credible information ensures greater access to innovative scientific outputs changing the way biological discoveries are shared with society and researchers, as already mentioned.
Increased access to information brings increased risks of misunderstanding or even misinformation. Misinformation has been defined as incorrect information spread, possibly, by accident (Scheufele, DA and Krause, NM, 2019; Swire-Thomson, B and Lazer, D, 2020). If incorrect information is intentionally spread is defined as disinformation and is associated with fake news.
Apart from the risks of misinformation or even disinformation, it is accepted that in general citizens rely on the information available online (Swire-Thomson, B and Lazer, D, 2020) to learn more about their health, being assumed that we are living in the age of Digital citizens.
Key Terms in this Chapter
Hereditary Deafness: Also defined as genetic hearing loss, is a subarea of human genetics focused in genetic etiology of hearing loss situations. It studies genes, mutations and non-functional proteins responsible for some loss of hearing. Gene mutations can cause hearing loss in several ways. Genetic factors make some people more susceptible to hearing loss than others. Age-related hearing loss is accepted to have also a genetic background. Nowadays, this area is also focused in molecular genetic rehabilitation of ciliated cells in order to restore some kind of sensorineural deafness. Hereditary deafness distinguish between syndromic and non-syndromic forms, being the last ones the most common ones. Is also possible to distinguish between autossomic cases, where the mutations and genes related are in chromosomes 1 to 22; cases related to X or Y chromosome or even associated to mitochondrial genome. The genetic of the autossomic cases can be dominant or recessive, where the genes or mutations associated can be inherited just from one or by both parents, respectively.
Human Genetics: Is the area of genetics that study the inheritance as it occurs in human beings. Encompasses a set of overlapping areas as classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, developmental genetics, clinical genetics, and genetic counseling. This studies contribute to better understand hereditary diseases and to develop molecular diagnosis and better treatments.
Biomedical Sciences: Are a set of natural sciences focused on Biology of the Human health and diseases that play a pivotal and essential role in health and healthcare. Ranging from more general to more specialized areas of knowledge, includes disciplines as anatomy and physiology, cell biology, biochemistry, microbiology, genetics and molecular biology, pharmacology, immunology, mathematics and statistics, and bioinformatics. Are essential to the investigation and understanding of many of the current controversies, concerns and dilemmas of modern life such as diet and health, food safety, new microbiological threats, the potential impact of various biotechnologies such as genomics, proteomics, stem cell technology and reproductive technologies on health and well-being, and associated ethical concerns. They are critical to the understanding of major biological processes, such as ageing, and health problems of international importance such as infectious diseases, cardiovascular disease, diabetes, obesity, cancer and dementia. Biomedical Sciences are the major focus of bioscience research and funding in the 21st century ( Subject Benchmark Statement UK Quality Code for Higher Education Part A: Setting and maintaining academic standards Biomedical Sciences, 2015 AU81: The in-text citation "Biomedical Sciences, 2015" is not in the reference list. Please correct the citation, add the reference to the list, or delete the citation. , https://www.rsb.org.uk/images/SBS-Biomedical-sciences-15.pdf )
Oral Rehabilitation: Is a process that encompasses a set of practices by which people with HL have optimizing abilities to present oral communication. Can include the use of auditive prosthesis or ear implants e.g. the cochlear implants. Several biomedical studies are going on combining molecular genetics and cells regeneration in order to restore ciliated cells whose damage is the major cause of sensorineural HL cases, as age-related hearing loss, due to the incapacity of Human being regenerate these cells.
Deafness: Also called hearing loss, is the condition where the individual is unable to hear some sounds. Considering the possible types, hearing loss can be Conductive, if associated with head bones from the outer and middle ear; Sensorineural if associated with the inner ear (Organ of Corti and ciliated cells) and the auditive nerve or even Mixed. Can be profound, severe, moderate or mild according to the severity. Can also be congenital if present at birth, post –lingual if present after acquision of language or even age-related if associated with older individuals.
E-Health: Refers to healthcare services supported by digital processes, communication or technology and also to healthcare practice using the internet. Also includes health applications (App) to provide information, collect data or ensure communication between patients and healthcare providers.