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Biophysical Semeiotics and Genetics: A Clinical View-point.
- Sergio Stagnaro (4 July 2003)
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The horse is running behind the cart
- susanne stevens, n/a (4 July 2003)
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Underestimates Impact
- Roger L. Albin (5 July 2003)
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Genetics and the general practitioner - will take some time
- Patrick J Morrison, Patrick J Morrison (7 July 2003)
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Genetics and the general practitioner: fellow travellers down the long road
- Maggie Kirk, Kevin McDonald, Marcus Longley, Jonathon Gray (28 July 2003)
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Sergio Stagnaro, Specialist in Blood, Gastrointestinal, and Metabolic Diseases. Researcher in Biophysical Semeiotics. Via Erasmo Piaggio 23/8. 16037 Riva Trigoso (Genoa) Italy.
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Sir, I agree with editorial’s authors (1) in considering a remarkable event “the development of genetics knowledge and skills and provision of genetics services within the NHS”, due to the urgent need to begin spreading the genetics gospel into the wider community of professionals and patients. It is necessary, thus, to incorporate genetics advances into everyday clinical practice. Considering the recent results, Biophysical Semeiotics obtained even in genetics over last decades (See HONCode site 233736, http://digilander.libero.it/semeioticabiofisica, URL http://digilander.libero.it/semeioticabiofisica/constitutions.htm), unfortunately overlooked also by the authors, it appears clearly the paramount importance of the role primary care physicians will play in genetics tomorrow, i.e., in a future, which in my town has fortunately already begun. For instance, in the war against cancers, we must especially utilize an already available, clinical tool that helps “all” doctors in bed side recognizing, in apparently healthy individuals, genetical errors, including hyperinsulinemia-insulinresistance (or better said, metalolic or Reaven’s syndrome, classic and “variant”), melatonin deficiency, metabolic disorders, prevalence of stress axis, a.s.o., which either bring about or aggravate chromosomal aberrations (mDNA as well as n -DNA: See in above cited site, URL http://digilander.libero.it/semeioticabiofisica/oncological.htm) as those observed in cancer cells. In fact, our target can be reached hopefully if “all” doctors are able to ascertain or at least suspect at the bed-side, i.e., in a clinical way, in apparently healthy persons, chromosomal aberrations in both m-DNA end n-DNA, which represents the “conditio sine qua non “ of oncogenesis, before cancer onset. As a working hypothesis, I thought previously that all chromosomal alterations, of whatever nature, are necessarily accompanied with similar microvascular modification of the local microcirculatory bed, both structural and functional in nature, in subject involved by abnormalities of pschyco-neuro-endocrinological-immune system (See: Oncological Terrain in the site at URL http://digilander.libero.it/semeioticabiofisica/oncological.htm). As a matter of fact, both genetical and environmental factors induce contemporaneously parenchymal and microvascular cells alterations, according to the well-known Tiscedorf’s concept of “Angiobiotopie”. For instance, a family of molecules called cyclins was descovered. It is through changes in the production of cyclins during the cell cycle that the activity of the genes controlling it are themselves regulated. All these events (control, regulation, a.s.o.), however, can happen only through changes in local microcirculation, i.e., in information-material- energy supply to tissue (See: http://digilander.libero.it/microangiologia). Now, fortunately, thanks to Biophysical Semeiotics we can evaluate clinically microcirculatory bed structure and function in a precise manner (2-5). Based on 46-year-long "clinical" experience, the decline in cancer rates all over the world could be more intense if scientists will think over and discuss the possibility that exists the "Oncological Terrain", a genetically dependent mitochondrial impairement (See in the site at URL: ). As a matter of fact, e.g., not all smokers are notoriously affected by pulmonary cancer, as well as not all people with chronic hepatitis will die of hepatocarcinoma. On the other side, in some families malignancies occur more frequently than in others. Actually, as I described in the above-mentioned papers, there are other causes that accounts for the reason of existence of the oncological “real” risk, i.e. Oncological Terrain. At this point, the first question to put is the following: "What does characterize Oncological Terrain from the "clinical" point of view?". In fact, in order to achieve efficacious cancer prevention on very large scale, based on clinica, genetic knowledges, it is unavoidable that the modifications occurring in the biological controll system (PNEI system) could be easily, promptly, and “quantitatively” ascertained and properly evaluated with the aid of a “clinical” and reliable method, i.e., by the use of a sthetoscope, and obviously without application of sophysticated semeiotics, that does not apply in “all” individuals, on a very large scale, but in those rationally selected at the bed-side, according to Single Patient based Medicine (“Single Patient Based Medicine” versus EBM. Sergio Stagnaro (16 May 2003) http://bmj.com/cgi/eletters/326/7398/1048#32299) Then, a second question immediately follows: "The Oncological Terrain which certanly can be induced or provoked or aggravete, is also in some way reversible?" It is urgent and necessary to know if the Oncological Terrain can be reversed, i.e., if it can totally or greatly disappear, with the aid of drugs and/or diet, ethymologically speaking, which exert a favourable influence on the characteristic of the psicho-neuro-endocrine-immunological system alterations, that represent “Oncological Terrain”. My answers to these questions are readable in my above cited site (5). The war against cancer will be fortunately won if all doctor are going to recognize, with the aid of a stethoscope, individual apparently health but positive for inhereted “Oncological Terrain”, m-DNA and n-DNA impairements, genetically-dependent, particularly intense in a well defined tissue region (local microcirculatory modifications, clinically recognized), who have to undergo immediately to proper diet, ethymologically speaking, and drugs, mainly in some cases. Unfortunately, change in Medicine, and in all other sciences, is an up- hill task! As Max Planck states: “A new scientific truth does not triumph by convincing its opponents and making them see the light, but rather because its opponents eventually die, and a new generation grows up that is familiar with it”.
Stagnaro Sergio MD., Member NYAS Riva Trigoso (Genoa) Italy. 1) Kavalier F., Kent A., Genetics and the general practitioner BMJ 2003;327:2-3 (5 July) 2) Stagnaro-Neri M., Stagnaro S., Semeiotica Biofisica del torace, della circolazione ematica e dell’anticorpopoiesi acuta e cronica. Acta Med. Medit. 13, 25 1997 3) Stagnaro-Neri M., Stagnaro S., Semeiotica Biofisica: la manovra di Ferrero-Marigo nella diagnosi clinica della iperinsulinemia-insulino resistenza. Acta Med. Medit. 13, 125 1997 4) Stagnaro-Neri M., Stagnaro S., Semeiotica Biofisica: valutazione clinica del picco precoce della secrezione insulinica di base e dopo stimolazione tiroidea, surrenalica, con glucagone endogeno e dopo attivazione del sistema renina-angiotesina circolante e tessutale – Acta Med. Medit. 13, 99. 5) Stagnaro S., Sindrome percusso-ascoltatoria di Iperfunzione del Sistema Reticolo-Istiocitario. Min. Med. 74, 479, 1983 (Pub-Med indexed for Medline) Competing interests: None declared |
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susanne stevens, retired cardiff cf24 3pf, n/a
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Thanks to Fred Kavalier for raising awareness of these issues. How many people know how much work on genetics is taking place already or that it is intended to introduce it further into primary care settings? - very few I would guess. I hope that Fred K is taking his own advice and informing people who consult him and encouraging his colleagues to do so - it takes as much time to produce an information leaflet for distribution as to submit an article to the BMJ - both are invaluable but guess which one usually comes last. It would be marvellous if we could predict there will be no big scandals over misuse of genetic information in the future - but we have learned that there are no watertight systems. Many people will not wish to give a doctor control over this information but it seems that we are heading more and more into an era of extensive medical control and intrusion into public lives - which is largely avoided by cerain groups of health workers themselves. Most practitioners for example (BMJ 2003) are not even registered with a general practitioner -so how is that health profile reliably collected. Will there be special private genetic services for some groups in society - how would that scew the data collected for the population as a whole? there is much more consultation needed but it is not happening because the money is there to be used in practice already, such as in the massive research factory at the University Hospital of Wales. Competing interests: None declared |
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Roger L. Albin, Professor of Neurology Dept. of Neurology, University of Michigan, 1500 E. Medical Center Drive, Ann Arbor, MI, 48109, USA
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Drs. Kavalier and Kent do well to draw attention to the implementation of genetic technology in medical care as exemplified by the NHS initiative. They leave the impression, perhaps inadvertantly, that the expansion of genetic services will affect only a very small minority of individuals. There are two important senses in which this impression is incorrect. First of all, monogenic and chromosomal diseases are not rare. The prevalence of Huntington disease, for example, is approximately the same as the prevalence of Motor Neuron disease, which is generally not thought of as a rare disorder. The aggregate prevalence of monogenic and chromosomal diseases is substantial. The considerable majority of these disorders, moveover, are untreatable and their impact is disproportionate to their prevalence. The example of Tay-Sachs disease in the USA shows how the availability of mutation and carrier screening can decrease markedly the incidence of a genetic disease. The example of Tay-Sachs demonstrates the second way in which genetic medical technology has broad impact. For the foreseeable future, the only interventions for the great majority of these diseases will be eugenic. This is a serious ethical issue which our societies have yet to confront in a broad and explicit fashion. Competing interests: None declared |
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Patrick J Morrison, Professor of Human Genetics Belfast City Hospital, Belfast BT9 7AB UK, Patrick J Morrison
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Editor, Kavalier and Kent [1] point out that the Government in its’ white paper Our inheritance, Our future has taken ‘the first steps down a long road’. The road may be longer and more uphill than downhill. They refer to the ‘new genetics’ - a phrase coined by David Comings in 1979 describing new genetic mapping techniques [2]. ‘New’ genetics is therefore hardly new and the phrase has now largely been dropped in genetic circles, however the authors are correct in that it may seem new to many General Practitioners. Modern molecular genetics teaching was introduced in the early 1990’s so any general practitioner older than ~35 ( a fair proportion of the workforce) will know little about modern genetics unless having dealt with specific clinical cases. The ethical aspects of genetics including consent and privacy issues have only started to be formally addressed by the Government within the last 5 years, so any General Practitioner older than ~25 ( probably 99% of the workforce) will have little understanding of consenting practice and ethical difficulties. A massive education programme for all health professionals, not just General Practitioners is required and money needs to follow and this will be painfully slow. The white paper only applies to NHS services in England, not the whole ‘NHS’ that Kavalier and Kent refer to. The ‘Milburn money’ of 2001 also only refered to England and delivery of money to the other Kingdoms of the UK through regional administrations is only now starting to trickle through. Kavalier and Kent wonder ‘why a DNA sample taken at birth is any more useful than one taken later in life’. Screening for neonatal and childhood illnesses would be a good place to start. In Northern Ireland, neonatal screening for cystic fibrosis has been carried out for several years and is only now being introduced into other parts of the UK. Life expectancy of patients affected with cystic fibrosis who were picked up on neonatal screening has been improved by around 10 years compared to the rest of the UK [3]. With DNA sampling at birth for selected disorders, such benefits are possible for cystic fibrosis and other conditions. Even ‘adult’ conditions such as Huntington disease although mostly appearing in later life, and at present untreatable, may have a therapeutic window years before symptoms start. Parents may have a duty to do the best for their children’s future health and this controversial area needs informed debate and consideration as new treatments come on stream. Predicting the future is difficult and even though such profiles and treatments may be some years away, with the slow grind of government machinery we need to start considering the ethics for this now. References: 1. Kavalier F, Kent A. Genetics and the general practitioner. BMJ 2003;327;2-3. ( 5th July). 2. Comings DE prenatal diagnosis and the “new genetics” Am J Hum Genet 1980;32:453. 3. McCloskey M, Redmond AO, Hill A, Elborn JS. Clinical features associated with a delayed diagnosis of cystic fibrosis. Respiration 2000;67:402-7. Competing interests: These views are entirely those of the author, who is a member of the Government’s Human Genetics Commission (HGC). The HGC has been asked to consider implications of DNA profiling at birth. |
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Maggie Kirk, Associate Head of School of Care Sciences University of Glamorgan, CF37 1DL, Kevin McDonald, Marcus Longley, Jonathon Gray
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In their recent editorial, Kavalier and Kent declare that the ‘time has now come to begin spreading the genetics gospel into the wider community of professionals and patients’.1 Getting health professionals ‘up to speed’ in genetics will indeed be a mammoth task, but the nursing professions are already making significant progress in this. The Genomics Policy Unit at the University of Glamorgan, in collaboration with the Cancer Genetics Service for Wales, is seeking to define core competencies in genetics for all nurses, midwives and health visitors, through a programme of work commissioned by the Department of Health. Using a nominal group approach, an expert panel of stakeholders from relevant fields of health care met in May 2003 to define the competencies in genetics that nurses, midwives and health visitors need at different levels of practice and in different settings, including primary care. Consensus developed over the two day structured programme, and 35 competency statements were endorsed by the panel, using a threshold for consensus of 75%. The statements were systematically validated and then refined to develop seven minimum competence standards for the health professionals at the point of registration (see box below). These seven competencies and the deliberations of the expert panel, are set out in an Interim Report, launched for consultation in July.2 Delegates at the conference held to launch the consultation were unanimous in endorsing these minimum competencies. Formal responses from the key stakeholder groups in nursing policy, practice and education are awaited before we can gauge just how much further down the ‘long road’ the nursing professions are now prepared to travel. All nurses, midwives and health visitors, at the point of registration, should be able to: 1. Identify clients who may benefit from genetic services and information. 2. Uphold the rights of all clients to informed decision making and voluntary action. 3. Appreciate the importance of sensitivity in tailoring genetic information and services to clients’ culture, knowledge and language level. 4. Demonstrate a knowledge and understanding of the role of genetic and other factors in maintaining health and in the manifestation, modification and prevention of disease expression. 5. Demonstrate a knowledge and understanding of the utility and limitations of genetic testing and information. 6. Recognise the limitations of one’s own genetics expertise. 7. Obtain and communicate credible, current information about genetics, for self, clients and colleagues. 1 Kavalier F, Kent A. Genetics and the general practitioner. White paper takes the first steps down a long road. BMJ 2003;327:2-3. 2 Kirk M, McDonald K, Longley M, Anstey S. Fit for practice in the genetics era: Defining what nurses, midwives and health visitors should know and be able to do in relation to genetics. 2003; University of Glamorgan, http://www.glam.ac.uk/socs/research/gpu/InterimReport.pdf. Competing interests: None declared |
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