Genetic conditions awaiting consideration by the HFEA
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Preimplantation genetic diagnosis (PGD) is a technique that enables people with a specific inherited condition in their family to avoid passing it on to their children. It involves checking the genes of embryos created through IVF for this genetic condition.
If a clinic wishes to use Preimplantation genetic diagnosis (PGD) to test for a new genetic condition, then it must apply to the HFEA for permission.
The following conditions are those which the HFEA is considering to allow clinics to use PGD to test for:
| Genetic condition | OMIM1 number* | Submit feedback to the HFEA by |
|---|---|---|
| Cowden syndrome/PTEN hamartoma tumour syndrome | 601728 | 16/04/2010 |
| Non-ketotic hyperglycinaemia (Nkh) or glycine encephalopathy (Gce) | 605899 | 10/05/2010 |
| Dystrophic Epidermolysis Bullosa | 131750 | 29/06/2010 |
| Leigh Syndrome (Infantile Subacute Necrotising Encephalopathy) |
185620 |
12/07/2010 |
| Pachyonychia Congenita Type 1 |
167200 |
12/07/2010 |
| Simpson Golabi Behmel Syndrome Type 1 |
312870 |
12/07/2010 |
| Multiple Endocrine Neoplasia Type 2B (MEN 2B) |
162300 |
14/07/2010 |
| Aicardi Goutieres Syndrome 1 (AGS1) | 225750 | 11/08/2010 |
| Alpha-1 antitrypsin deficiency (A1AD) | 107400 | 11/08/2010 |
| GM1 Gangliosidosis | 230500 | 11/08/2010 |
| Sanjad Sakati syndrome | 241410 | 11/08/2010 |
| Ataxia telangiectasia | 208900 | 11/09/2010 |
| Alpha mannosidosis | 248500 | 16/09/2010 |
1 Online Mendelian Inheritance in Man, OMIM (TM). McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), {date of download}. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/
Have your say on conditions awaiting consideration
If you have any feedback on the genetic conditions awaiting consideration by the HFEA, send us an email and we will discuss your comments at the next Licence Committee.
Email: pgd@hfea.gov.uk
Page last updated: 07 May 2010
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