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TREAT-NMD Ethical Issues Simon Woods

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Current ethical issues from TREAT-NMD Alliance PEC

• Aims

• To discuss current ethical issues

Explore thoughts and opinions

Examples of current strategies/practices

• Two questions related to:

• Self-medication and access to ‘internet-pharmacy’

• Screening and genetic testing in NMD

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Current ethical issues from TREAT-NMD Alliance PEC

Scenario 1

For several years Ataluren (formerly PTC124) has been available via the internet from a Chinese Pharmaceutical Company. Recently a clinician raised concerns that Ataluren is available from other commercial sources such as SelleckBio.com. The clinician was concerned that parents were considering buying the ‘substance’ and medicating their child who has DMD .

Questions:

• What is the experience of ‘self-medication’ strategies?

• Is it unethical?

• What ought to be done about it?

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• Some arguments for:

• Not enough is being done to bring therapies to the market

• It’s the right of the patient/ parent to do what they can for themselves/ their child

• It’s a way to access cutting edge therapies

• It’s a matter of personal autonomy Right to pursue my idea of what is good

Right of ‘non-interference’

• It’s a right of individual economics I have the money so I can buy it

Might bring market forces to bear and make drugs available/ better price

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Some arguments against

• Open to exploitation ‘hype’ ‘emotional’ ‘financial’ Bad examples of consumer autonomy from the HIV/AIDS

• Therapeutic misconception

• Direct risk – don’t know what you are buying

• Undermines conventional research

• Parental ‘rights’ trumped by a wider societal interest in protecting the rights and interests of children

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• Diane Goetz at PTC Therapeutics who gave this official statement:

Ataluren (formerly PTC124) is an investigational new drug that is only available through clinical trials. It has not been approved for use by regulatory authorities in any country and thus cannot be legally purchased for human use.

Web sites advertising PTC124 or Ataluren for sale are not connected to PTC Therapeutics, and the company does not know anything about the quality, purity, or safety of these products. It is also quite possible that the products being sold are not, in fact, Ataluren.

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Discussion summary

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• Scenario 2

• A family that recently lost a child to SMA Type I is appealing to a national parent organisation to campaign for a policy of ‘pre-natal’ (?) screening for neuro-muscular diseases with a view to eradicating these diseases.

• Other families within the organisation feel that this represents an overly- negative view of those people who are living with neuro-muscular diseases.

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• The Expressivist Argument.

Often formulated by disability rights campaigners as the view that strategies (such as pre-natal screening) aiming to prevent the birth of people with certain traits expresses a negative attitude of those who are living with those traits.

• Parens, Erik, and Asch, Adrienne, “The Disability Rights Critique of Prenatal

Genetic Testing: Reflections and Recommendations” Hastings Center Report, 1999, September-October, 29(5): S1-S22, p.S1.

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Questions

Approach to pre-natal screening?

• What are the main issues?

• What strategy should parent/ patient organisations adopt?

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• Some arguments in favour

• No parent should find out that they are a carrier for SMA for the first time at the moment when their child receives the diagnosis.

• Allows for parental choice and reproductive planning

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• Other considerations

• Pre-natal screening can only help if an affected child has already been born

• Carrier testing is possible but it would have to be part of a universal programme (e.g. like CF testing of newborns)

• Some have argued against routine carrier testing of children (stigma, ‘geneticisation’)

• More knowledge, and therefore choice is good

• Cost implications may prevent adoption as a matter of public policy (private costs would exclude many people)

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• Confounding information:

• Su et al PloS ONE 2011, http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0017067

• Personalised medicine portal: https://elcaminogmi.dnadirect.com/grc/patient-site/spinal-muscular-atrophy/who-should-consider-testing-for-spinal-muscular-atrophy.html

• ACOG: http://www.acog.org/Resources%20And%20Publications/Committee%20Opinions/Committee%20on%20Genetics/Spinal%20Muscular%20Atrophy.aspx

• Little et al 2010 http://www.ncbi.nlm.nih.gov/pubmed/20207244

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• Parallel debates for DMD

• About a quarter to a third of mutations are de novo. These cases occur in families with no known history of the disease, and would not be identifiable by cascade screening

• Three factors for not adopting: 1. the lag in clinical diagnosis of the first affected child, which means

that other affected children may have been born in the interim

2. the relatively high proportion of de novo DMD mutations (about a quarter to a third of cases)

3. Some at risk of being carriers decline further investigation. (UK NSC External Review 2011)

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• Early diagnosis of NMD may provide options for early intervention

• Autonomy and parental choice argue in favour of wider options for screening/ testing

• Some parents found the prospect of early diagnosis distressing (e.g. with DMD living with the knowledge of having a disabled child before the disability was manifested)

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Summary of discussion

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Thanks for contributing