Abstract
Identifying genetic factors that could reliably predict health risks for individuals has the potential to bring great health benefits, both for the individuals concerned and for health-care providers. Genetic profiling at birth would allow a person's genome to be analysed at an early stage, and the data electronically stored for future use. However, although this might seem like an attractive proposition, it carries with it serious ethical and social concerns that would need to be addressed if the genetic profiling of newborns were ever to be considered on a population-wide basis.
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Glossary
- Galactosaemia
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A rare autosomal recessive disorder. It is an inability to use galactose, which accumulates in the blood. Untreated affected infants fail to thrive and become mentally retarded, but if galactose is eliminated from the diet growth and development can be normal.
- Guthrie cards
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Cards that are used in several countries in the screening of newborns for more than 30 genetic disorders. Assays for specific analytes are carried out on proteins that have been reconstituted from dried blood spots.
- Haemochromatosis
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A hereditary disease that is characterized by improper processing of iron in the body. There is excessive absorption and storage of iron in affected individuals, which leads to damage of many organs, including the liver and endocrine glands.
- Haemoglobinopathies
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Inherited disorders of haemoglobin that affect the properties of red blood cells.
- Huntingdon disease
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(Also known as Huntington chorea.) A rare, inherited disease of the CNS, which is characterized by progressive dementia, abnormal posture and involuntary movements. The typical age of onset is between 30 and 50 years.
- International Hapmap Project
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A major international research effort to construct a resource that will facilitate future studies that relate human genetic variation to health and disease by understanding the haplotype structure of the human genome.
- Munchausen syndrome by proxy
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Munchausen syndrome is a psychological disorder that is characterized by the repeated fabrication or causation of disease symptoms or trauma for the purpose of gaining medical attention or treatment. In the case of Munchausen syndrome by proxy, it is a caregiver, usually a parent, who feigns or induces an illness in another person, usually her or his child.
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Almond, B. Genetic profiling of newborns: ethical and social issues. Nat Rev Genet 7, 67–71 (2006). https://doi.org/10.1038/nrg1745
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DOI: https://doi.org/10.1038/nrg1745
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