Mandy Aldwin, Founder Trustee of the ISG and patient representative BADGEM Clinical and Diagnostic Signposting subgroup

Introduction: The Ichthyosis Support Group (ISG) conducted an anonymous survey of its members as part of the work of the BADGEM subgroup on Clinical and Diagnostic Signposting. There was an excellent response from 100 ISG members, demonstrating their interest and engagement in seeking knowledge about their condition. The survey entitled ‘Genetic Testing and Diagnosis’ was open for a month, consisted of 5 questions and was advertised via the ISG website, Facebook and Twitter. The survey was conducted following discussion in the subgroup where the view from the medical professionals and researchers differed from the patient representative. It was the view of some of the panel that many patients have had genetic testing and know they can request it. The results and responses were very interesting.

Q1. Would you like a genetic diagnosis i.e. to know the gene and mutation affected in your family? This could clarify the type of Ichthyosis you/your child has.

6 % skipped this question

Q2. Have you ever sought a genetic diagnosis/testing?

6 % skipped this question

Q3. If you have sought genetic testing/diagnosis, how did you go about this? For example was it through your GP, dermatologist, geneticist or other. Please provide details below of your experience. Alternatively if you have not sought genetic testing/diagnosis please let us know why you have not.

Below is a summary of the responses.

• Dermatologist/Dermatology Department/Geneticist/Paediatrician
• No proper guidance and information provided
• I’ve never found a doctor interested in discussing the condition, let alone spending time and money re-diagnosing a chronic condition.
• Currently reviewing options with a geneticist privately.
• GP took a blood sample, and we sent it by mail to one of the few labs that performs genetic testing.
• I didn’t think this would be made available and I’ve never been offered it.
• Asked Dermatologist (NHS), was told was not available.

Q4. Do you see any advantages or disadvantages from gaining genetic testing/diagnosis?

5 % skipped this question

Q5. If you feel there are advantages and/or disadvantages to having genetic diagnosis/testing please give details below.

A summary of the answers given are below.

• Able to prepare my daughter for being a possible carrier. Early diagnosis for her child unlike I had with her brother.
• It would make treating it a lot easier
• So I know my chances of passing it on to my children when I have them
• While it won’t help my case particularly, I’m very much in favour of building data sets useful to understand disease and improve treatments
• Advantages: rapid diagnosis, no chance of misdiagnosis. Disadvantages: if it can be genetically diagnosed after birth, then it can be diagnosed in utero, which opens up ‘a whole can of morality worms’.
• For me personally, the advantage is that I’ll hopefully have an exact diagnosis as the initial DNA results couldn’t confirm Netherton’s Syndrome even though I have some of the symptoms. The disadvantage is that there is no guarantee that the 100,000 genomes project (the project I’m involved in) will be able to produce results.
• I am married to someone with the same type of Ichthyosis, but we want to know which genetic mutations we both have so we can determine if our children will inherit it.
• As long there is transparency re the person knowing what is being tested and why from the beginning and the process remains ethical.
• Advantages: Nice to know exact diagnosis, inheritance pattern etc. Makes it easier to know what research is relevant to you. Disadvantages: none (if any, the lack of labs that performs genetic testing. I think knowing the exact diagnosis makes it easier to have Ichthyosis).
• Confirmed the diagnosis of XLI and explained other issues.
• For a family that had never had any occurrence of Ichthyosis in either my side (maternal) or my husband’s side (paternal), having our first born son and our daughter have Ichthyosis was a huge shock. We do not know what type they have or the genes that are responsible for it, only that they present differently than any Ichthyosis listed and are self-healing, even though they were born with a collodion membrane.

Summary: Patients who participate in such surveys are usually proactive individuals who seek information, and the results of this survey prove that patients are not currently easily able, or given the knowledge to access genetic testing even though they have the desire to know their specific diagnosis where available. Access to genetic testing and the willingness of medical professional (Consultant, GP etc) to refer to the service is varied around the country, and it appears the knowledge of those individuals also varies.

Comment from Edel O’Toole, BADGEM Clinical and Diagnostic Signposting subgroup, ISG MAB: The Clinical and Diagnostic Signposting subgroup has prepared a spreadsheet of genetic testing available in the UK which will be available shortly on the BADGEM website. In general, genetic testing is best requested by dermatologists or clinical geneticists with the expertise to interpret the result. The cost of exome sequencing (sequencing all the protein-coding DNA in the genome) will reduce considerably over the next 5 years, which will make genetic testing much more accessible. The 100K Genomes project Skin Genomics England Clinical Interpretation Partnership will also provide an opportunity to provide genetic testing for patients with rare genetic skin disease, including ichthyosis, who have not got a genetic diagnosis.

This summary was published in the British Association of Dermatologists (BAD) Summer 2015 newsletter which is distributed to all BAD members.

Links

BADGEM http://www.badgem.org.uk/

100K Genomes project http://www.genomicsengland.co.uk/the-100000-genomes-project/