The Pre-symptomatic Diagnosis of Late-Onset Severe Hereditary Diseases: Choice or Necessity? (notice n° 585036)
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| Language code of text/sound track or separate title | fre |
| 042 ## - AUTHENTICATION CODE | |
| Authentication code | dc |
| 100 10 - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Medlej-Hashim, M. |
| Relator term | author |
| 245 00 - TITLE STATEMENT | |
| Title | The Pre-symptomatic Diagnosis of Late-Onset Severe Hereditary Diseases: Choice or Necessity? |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Date of publication, distribution, etc. | 2005.<br/> |
| 500 ## - GENERAL NOTE | |
| General note | 98 |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Progress achieved in the field of molecular genetics has opened the door to pre-symptomatic diagnosis tests of several severe hereditary diseases, a majority of which are dominant and appear later in life. Given the importance of diagnosis in some of the cases where medical supervision and prevention are possible, there are a number of ethical dilemmas with regard to most of these diseases, which unfortunately have no cure or preventive treatment available. Above and beyond the capacity for medical care provision, there is a very high level of pressure and anxiety felt by every member of a family who has someone affected by one of these diseases in that they might be a carrier of a mutated gene that could be the cause or source of the illness. These individuals carry the burden of uncertainty in that they may have already transmitted this gene or could give it to any of their children. Moreover, there is often a significant level of guilt when one is the carrier but is not affected by the disease itself. More and more frequently in these types of cases, there is a strong desire to know in order to better organize and plan one’s life and that of one’s potential future family should one wish to found one. This paper discusses these problems based upon an analysis of four cases of such diseases with late onset: Huntington’s disease, common forms of thyroid cancer, familiar forms of a predisposition to breast and ovarian cancer, and Von Hippel-Lindau syndrome. However, regardless of the type of disease, the decision to take a genetic test is solely the choice of the individual in question, and the person should be accompanied and guided in his or her reflection by a multi-disciplinary team that can advise him or her and initiate useful deliberations on the various possibilities, including their advantages and disadvantages. |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | pre-symptomatic diagnosis |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | biomedical ethics |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | hereditary |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | severe illness |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | late onset |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mégarbané, A. |
| Relator term | author |
| 786 0# - DATA SOURCE ENTRY | |
| Note | Santé Publique | 17 | 4 | 2005-12-01 | p. 617-626 | 0995-3914 |
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| Uniform Resource Identifier | <a href="https://shs.cairn.info/journal-sante-publique-2005-4-page-617?lang=en&redirect-ssocas=7080">https://shs.cairn.info/journal-sante-publique-2005-4-page-617?lang=en&redirect-ssocas=7080</a> |
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