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• Ethical and practical issues related to newborn screening for hereditary haemochromatosis
  Martin B Delatycki
  Published on: 27 April 2016

• Published on: 27 April 2016

  Ethical and practical issues related to newborn screening for hereditary haemochromatosis

  • Martin B Delatycki, Medical Geneticist
  • Other Contributors:
    • Katie J. Allen

  Dear Editor,

  We read with interest the article by Cadet and colleagues in which the authors propose “reverse cascade screening” by newborn screening for HFE-related hereditary haemochromatosis as an efficient way of detecting affected adults.[1]

  Although HH is an ideal disease for which to undertake screening as it is common and easy to prevent [2] and there should not be concerns of insurance discrimina...

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  Dear Editor,

  We read with interest the article by Cadet and colleagues in which the authors propose “reverse cascade screening” by newborn screening for HFE-related hereditary haemochromatosis as an efficient way of detecting affected adults.[1]

  Although HH is an ideal disease for which to undertake screening as it is common and easy to prevent [2] and there should not be concerns of insurance discrimination, [3] we believe it is unethical to offer population- based screening of neonates.

  There have been no definite cases of HFE-related haemochromatosis causing organ damage reported in individuals prior to adulthood and therefore knowledge of genetic risk is not useful to the individual until adulthood.[4] There is anecdotal evidence of illness in children being ascribed to haemochromatosis where it is clearly not the case.[4] Parents may institute a low iron diet in the mistaken belief that this will prevent disease in their offspring, a practice that can in fact be harmful to the child. Finally, because the individual tested did not request the testing, the information may be forgotten and never be passed on to the at-risk individual.

  Since neonatal screening would not be of value to the individual for at least 20 years and in fact could cause harm because of overzealous dietary iron restriction or inappropriate phlebotomy, the idea of screening a neonate to benefit his/her parents is a cause for even more concern. Screening should be primarily for the benefit of that child, not a third party.

  A more appropriate time to offer screening for haemochromatosis may be to high school students as we have shown in a school community in Victoria, Australia.[5] The simple logistics of screening in a high school enables informed consent since education programs can be easily delivered in that setting. The individual at risk of haemochromatosis learns of that result at a time that they can take appropriate steps to prevent iron overload and thus disease morbidity.

  Associate Professor Martin Delatycki
  Dr Katie Allen

  References

  1. Cadet E, Capron D, Gallet M, et al. Reverse cascade screening of newborns for hereditary haemochromatosis: a model for other late onset diseases. J Med Genet 2005;42:390-395.

  2. Delatycki M, Allen K, Nisselle A, et al. Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis. Lancet 2005; In Press.

  3. Delatycki M, Allen K, Williamson R. Insurance agreement to facilitate genetic testing. Lancet. 2002;359(9315):1433.

  4. Delatycki MB, Powell LW, Allen KJ. Hereditary hemochromatosis genetic testing of at-risk children: what is the appropriate age? Genet Test 2004;8(2):98-103.

  5. Gason AA, Aitken MA, Metcalfe SA, et al. Genetic susceptibility screening in schools: attitudes of the school community towards hereditary haemochromatosis. Clin Genet 2005;67(2):166-74.

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  Conflict of Interest:
  None declared.

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