Public Experiences, Knowledge and Expectations about Medical Genetics and the Use of Genetic Information

Genetics is a branch of biology which can be dened as the study of genes and heredity. Genetics when seen in relation to oral health can show various manifestations ranging from developmental disturbances to precancerous and cancerous lesions. Signicant advances in research methods and newly emerging partnerships between private and public sector interests are creating new possibilities for utilization of genetic information for the diagnosis and treatment of human diseases. The availability and application of genetic information to the understanding of normal and abnormal human growth and development are fundamentally changing the way we approach the study of human diseases. As a result, the issues and principles of medical genetics are coming to bear across all disciplines of health care. In this review, we discuss some of the potential applications of human molecular genetics for the diagnosis and treatment of oral diseases. This discussion is presented in the context of the ongoing technological advances and conceptual changes that are occurring in the eld of medical genetics.

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Familial disclosure by genetic healthcare professionals: a useful but sparingly used legal provision in France

Journal of Medical Ethics ◽

10.1136/medethics-2018-105212 ◽

2019 ◽

Vol 45 (12) ◽

pp. 811-816 ◽

Cited By ~ 3

Author(s):

Benjamin Derbez ◽

Antoine de Pauw ◽

Dominique Stoppa-Lyonnet ◽

Frédéric Galactéros ◽

Sandrine de Montgolfier

Keyword(s):

Ethical Issue ◽

Genetic Information ◽

Healthcare Professionals ◽

Relevant Information ◽

Genetic Mutation ◽

Medical Genetics ◽

Legal Provision ◽

Legal Provisions

Familial disclosure of genetic information is an important, long-standing ethical issue that still gives rise to much debate. In France, recent legislation has created an innovative and unprecedented procedure that allows healthcare professionals (HCPs), under certain conditions, to disclose relevant information to relatives of a person carrying a deleterious genetic mutation. This article will analyse how HCPs in two medical genetics clinics have reacted to these new legal provisions and show how their reticence to inform the patients’ relatives on their behalf leads them to use this option sparingly.

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Molecular and medical genetics

Oxford Handbook of Medical Sciences ◽

10.1093/med/9780198789895.003.0003 ◽

2021 ◽

pp. 195-224

Keyword(s):

Gene Expression ◽

Population Genetics ◽

Gene Structure ◽

Protein Sequence ◽

Genetic Information ◽

Genetic Diseases ◽

Medical Genetics ◽

Pharmacological Interventions ◽

Rna Transcription ◽

Dna Cloning

‘Molecular and medical genetics’ firstly covers the principles of molecular genetics, including gene structure, gene expression, and how mutations affect the encoded protein sequence. The key mechanisms of gene expression are described, including regulation and RNA transcription, processing, and translation. The organization of the genome is described, followed by the techniques of DNA cloning and sequencing. The second part of the chapter on medical genetics covers the principles of population genetics and genetic diseases, their treatment, and the integration of knowledge of genetic information into pharmacological interventions (pharmacogenetics and pharmacogenomics).

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The Impact of Molecular Genetics on Oral Health Paradigms

Critical Reviews in Oral Biology & Medicine ◽

10.1177/10454411000110010201 ◽

2000 ◽

Vol 11 (1) ◽

pp. 26-56 ◽

Cited By ~ 25

Author(s):

T.C. Hart ◽

M.L. Marazita ◽

J.T. Wright

Keyword(s):

Molecular Genetics ◽

Dna Polymerase ◽

Genetic Information ◽

Mendelian Inheritance ◽

Medical Genetics ◽

Human Diseases ◽

Diagnosis And Treatment ◽

Incomplete Penetrance ◽

Oral Diseases ◽

The Impact

As a result of our increased understanding of the human genome, and the functional interrelationships of gene products with each other and with the environment, it is becoming increasingly evident that many human diseases are influenced by heritable alterations in the structure or function of genes. Significant advances in research methods and newly emerging partnerships between private and public sector interests are creating new possibilities for utilization of genetic information for the diagnosis and treatment of human diseases. The availability and application of genetic information to the understanding of normal and abnormal human growth and development are fundamentally changing the way we approach the study of human diseases. As a result, the issues and principles of medical genetics are coming to bear across all disciplines of health care. In this review, we discuss some of the potential applications of human molecular genetics for the diagnosis and treatment of oral diseases. This discussion is presented in the context of the ongoing technological advances and conceptual changes that are occurring in the field of medical genetics. To realize the promise of this new molecular genetics, we must be prepared to foresee the possibilities and to incorporate these newly emergent technologies into the evolving discipline of dentistry. By using examples of human conditions, we illustrate the broad application of this emerging technology to the study of simple as well as complex genetic diseases. Throughout this paper, we will use the following terminology: P enetrance—I n a population, defined as the proportion of individuals posessing a disease-causing genotype who express the disease phenotype. When this proportion is less than 100%, the disease is said to have reduced or incomplete penetrance. Polymerase chain reaction (PCR)-A technique for amplifying a large number of copies of a specific DNA sequence flanked by two oligonucleotide primers. The DNA is alternately heated and cooled in the presence of DNA polymerase and free nucleotides, so that the specified DNA segment is denatured, hybridized with primers, and extended by DNA polymerase. MIM-Mendelian Inheritance in Man catalogue number from V. McKusick's Mendelian Inheritance in man (OMIM, 1998).

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Preparing for the Ethical Practice of Precision Medicine

10.2310/im.1465 ◽

2017 ◽

Author(s):

Megan A Allyse ◽

Richard R Sharp

Keyword(s):

Genetic Information ◽

Information Overload ◽

Social Issues ◽

Genomic Medicine ◽

Genetic Discrimination ◽

Medical Genetics ◽

Direct Access ◽

Ethical Practice ◽

Genetic Traits ◽

Direct To Consumer

The role of genetics in medicine is changing quickly. New discoveries are rapidly bridging the chasm from bench to bedside, and in addition to medical advances, thousands of people are exploring their genetic traits and ancestry through direct-to-consumer companies. Staying abreast of these changes and their potential implications for patient care can be difficult. To help, we suggest several high-level points of reference regarding the current state of genomic medicine, with a focus on the ethical and social issues raised by these technologies. This review covers the rise of genomic medicine, information overload, direct access to genetic information, genetic discrimination, and informed consent. Tables list the American College of Medical Genetics and Genomics recommendations for reporting of incidental findings in clinical exome and genome sequencing, an excerpt from the Genetic Information Nondiscrimination Act, and genetics education resources for physicians. This review contains 3 tables, and 44 references. Key words: Genomic medicine, genetic medicine, medical genetics, genetic testing, direct-to-consumer genetics, genetic discrimination

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Preparing for the Ethical Practice of Precision Medicine

10.2310/tywc.1465 ◽

2018 ◽

Author(s):

Megan A Allyse ◽

Richard R Sharp

Keyword(s):

Genetic Information ◽

Information Overload ◽

Social Issues ◽

Genomic Medicine ◽

Genetic Discrimination ◽

Medical Genetics ◽

Direct Access ◽

Ethical Practice ◽

Genetic Traits ◽

Direct To Consumer

The role of genetics in medicine is changing quickly. New discoveries are rapidly bridging the chasm from bench to bedside, and in addition to medical advances, thousands of people are exploring their genetic traits and ancestry through direct-to-consumer companies. Staying abreast of these changes and their potential implications for patient care can be difficult. To help, we suggest several high-level points of reference regarding the current state of genomic medicine, with a focus on the ethical and social issues raised by these technologies. This review covers the rise of genomic medicine, information overload, direct access to genetic information, genetic discrimination, and informed consent. Tables list the American College of Medical Genetics and Genomics recommendations for reporting of incidental findings in clinical exome and genome sequencing, an excerpt from the Genetic Information Nondiscrimination Act, and genetics education resources for physicians. This review contains 3 tables, and 44 references. Key words: Genomic medicine, genetic medicine, medical genetics, genetic testing, direct-to-consumer genetics, genetic discrimination

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Genetic Knowledge and Genetic Reproduction Technologies as New Modes of Governance – are We Witnessing a New Form of Eugenics?

Croatian International Relations Review ◽

10.2478/cirr-2014-0002 ◽

2013 ◽

Vol 19 (69) ◽

pp. 33-54

Author(s):

Lara Barberić

Keyword(s):

Genetic Information ◽

Ethical Issues ◽

Medical Genetics ◽

Human Behaviour ◽

Nazi Germany ◽

Genetic Knowledge ◽

New Form ◽

Modes Of Governance ◽

The Relationship ◽

New Modes Of Governance

Abstract This article aims to examine whether there is continuity between eugenics as employed in Nazi Germany and modern-day medical genetics. Drawing on Foucault’s conceptualization of the relationship between power and knowledge, it draws the conclusion that despite the differences in the means employed and underlying motivations, both may serve as disciplinary tools and shape human behaviour. Finally, it addresses ethical issues that arise during genetic reproduction counselling. Namely, it reviews how genetic information during genetic reproduction counselling is presented to those being counselled and puts forward the idea on how to stay committed to the principle of non-directiveness.

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