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Testing, or at risk Discuss testing for Huntingtonís disease, and living with the risk of HD

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Old 14-08-17, 09:29 PM   #1
Hoping81
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Default How long did the testing process take

Hi
Im currently going through the councelling process to get tested for HD. I just wanted to see the sort of time scales everyone experienced when looking at getting tested. I had my initial session back in july and was told that id be back in around a month. But my next meeting is scheduled for october. I realise this process isnt going to happen over night and i dont want it too but just need to get my head around how long this takes.
Emotionally its a rollercoaster. Just these big gaps seem to mess with my head (i almost forget i had this black cloud looming) and then ive got to start it all over again.
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Old 15-08-17, 09:12 AM   #2
shiraz
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Default Re: How long did the testing process take

I think it will depend on how many counselling sessions you have more than anything. Here my husband was referred to a neurologist who almost immediately suspected he had hd. My husband said he didn't want any counselling and just wanted to know what was up with him so he was referred straight for an MRI and blood test which happened a month later and we waited 2 months for the results. Every circumstance is obviously different and here my husband had been symptomatic for several years and was very difficult to live with so maybe his age also came into play, the fact we don't have kids etc.
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Old 15-08-17, 05:41 PM   #3
Gabby
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Default Re: How long did the testing process take

Quote:
Originally Posted by Hoping81 View Post
Hi
Im currently going through the councelling process to get tested for HD. I just wanted to see the sort of time scales everyone experienced when looking at getting tested. I had my initial session back in july and was told that id be back in around a month. But my next meeting is scheduled for october. I realise this process isnt going to happen over night and i dont want it too but just need to get my head around how long this takes.
Emotionally its a rollercoaster. Just these big gaps seem to mess with my head (i almost forget i had this black cloud looming) and then ive got to start it all over again.
HI Hoping81 It took about a year for a pre-symptomatic test , i think, with my hubbie we went to three counselling sessions but appointments were not that close together then the blood test then back for another appointment to be told result, this was at the Churchill/ John Radcliff Genetics clinic in oxford .

Its long winded but it gives you time to make sure you are sure you want the result . even so its hard when you get it .

Take care
Gabby
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Old 16-08-17, 12:37 AM   #4
Allan
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Default Re: How long did the testing process take

.
Have a look at these two links plus a read of the text below. It gives a thorough view of everything related to Genetic Testing including the Counselling sessions:

www.uhs.nhs.uk/Media/Controlleddocuments/Patientinformation/Genetics/Testing-for-the-Huntington-Disease-Gene-Leaflet.pdf

http://onlinelibrary.wiley.com/doi/10.1111/j.1399-0004.2012.01900.x/pdf


The following is taken from: GENETIC COUNSELLING IMPLICATIONS FOR INTERMEDIATE ALLELE: PREDICTIVE TEST RESULTS FOR HUNTINGTON DISEASE
by Alicia Joy Semaka

1.2 Predictive Testing for Huntington Disease

1.2.1 Introduction

Prior to the availability of predictive testing for HD, concerns were raised about whether or not it was ethically appropriate to offer such a test when no cure or treatment existed for the disease [Ball and Harper, 1992; Craufurd and Harris, 1986; Terrenoire, 1992; Tyler and Morris, 1990]. These concerns included fear that individuals who received a mutation-positive predictive test result (PTR) would become severely depressed or suicidal; that persons who received a mutation-negative PTR might experience survivorís guilt; and worry that testing could have a negative impact on family relationships [Bates, 1981; Farrer, 1986; European Community Huntingtonís Disease Collaborative Study Group, 1993; Simpson and Harding, 1993; Wexler et al., 1985]. Conversely, it was also believed that predictive testing could significantly benefit the tested individual by reducing uncertainty, fear, and anxiety, particularly if they receive a mutation-negative result. After careful consideration, HD became the first disease for which predictive testing was offered to at-risk individuals.

In 1986, the first predictive test for HD was performed by linkage analysis using DNA markers mapped to chromosome 4p16.3 [Gusella et al., 1983; Quarrell et al., 1987 Meissen, 1988]. While linkage analysis allowed at-risk individuals to learn with approximately 95% certainty whether they inherited the HD gene mutation, this method required extensive participation of affected and unaffected family members to establish the segregation of the genetic markers with the disease in the family [Hayden et al., 1988]. Consequently, this requirement excluded some at-risk individuals from testing because family members had died or did not wish to participate [Simpson and Harding, 1993]. Another limitation was the possibility of an incorrect result if a recombination event occurred between the linked markers and the disease gene.

The discovery of the genetic mutation in 1993 replaced linkage analysis with direct-mutation analysis of the number of CAG repeats in the HTT gene [The Huntington's Disease Collaborative Research Group, 1993]. Direct-mutation analysis lead to significant improvements to predictive testing and increased the accuracy of the results. It eliminated the possibility of recombination errors and removed the need for extensive family participation. Thus, all at-risk individuals were eligible for testing regardless of their family circumstance [Simpson and Harding, 1993].

In order to be eligible for predictive testing an individual must be the age of majority (i.e. 18 years old), be at either 25% or 50% risk, display no clinical symptoms of the disease, have an established family history of HD, preferably confirmed by genetic testing, be able to provide informed consent and have no major psychiatric disorders or suicidal risks [Benjamin et al., 1994; Fox et al., 1989].

1.2.2 Predictive Testing Program

Through consultation with clinicians, scientists, patients and families, and lay support and educational organizations, predictive testing guidelines were established to exemplify best clinical care [Benjamin et al., 1994; Fox et al., 1989; IHA and WFN, 1994]. These guidelines were first developed in British Columbia, Canada and have been subsequently implemented worldwide. While the predictive testing process outlined in the international guidelines signifies best clinical practice, variability in this process exists amongst different testing centers, most often in regards to the number of genetic counselling sessions offered.

The predictive testing protocol followed at the Centre for Huntington Disease at the University of British Columbia in Vancouver, British Columbia (B.C.) closely adheres to the testing process outlined in the international guidelines. Approximately four genetic counselling sessions are provided in the context of a multidisciplinary health care team including geneticists, genetic counsellors, social workers, and psychologists. The testing process occurs over the course of many weeks to allow the individual sufficient time to assess whether or not they would like to proceed with receiving their PTR. Individuals are encouraged to bring a support person, such as a spouse or a friend, to all genetic counselling sessions. While written informed consent is obtained at the start of the predictive testing process, individuals are frequently reminded that they are free to withdraw from the testing at any time. It is estimated that approximately 25% of individuals who enter the predictive testing process do not receive their PTR [Wiggins et al., 1992].

During the first genetic counselling session, individuals are provided information on the natural history and genetics of HD and the potential benefits and harms of predictive testing [Benjamin et al., 1994; Fox et al., 1989]. The individualís decision making and motives for pursuing predictive testing are explored, as is their available support systems. Individuals are often advised to ensure all life and disability insurance is obtained prior to proceeding with testing. A detailed medical and family history is taken, a psychological assessment is conducted to evaluate the individualís psychological well-being, and a neurological exam is performed to assess whether or not the individual is displaying early signs of HD. Approximately 5-10% of individuals who enter the predictive testing process exhibit symptoms of the disease and thus, genetic testing would be considered diagnostic, not predictive [Hayden and Bombard, 2005]. Individuals are commonly asked if they would like to know the outcome of the neurological exam as it is thought that active involvement in this decision benefits psychological adjustment to a possible diagnosis [Bloch et al., 1993].

The objective of the second genetic counselling session is to prepare individuals for their PTR [Benjamin et al., 1994; Fox et al., 1989]. During this session, the individualís expectations for their result, the impact and significance a mutation-positive or negative result may have on their life, and strategies for dealing with their result are explored. Individuals are often advised to make a plan for what they will do after receiving their result and are encouraged to think about their plans for disclosing their result to family and friends.

In the third genetic counselling session the individual is provided their PTR in the most clear and direct manner possible [Benjamin et al., 1994; Fox et al., 1989]. Most often, the individualís result is sealed and not known to the medical genetics service providers until moments before the third session begins. Regardless of the result outcome, many individuals experience shock; thus, they are often provided a private moment to digest the information before presented with an opportunity to ask questions.

The fourth genetic counselling session normally occurs two weeks after the individual receives their PTR [Benjamin et al., 1994; Fox et al., 1989]. All individuals receive this follow-up counselling session regardless of their result outcome. The goal of this session is to offer additional counselling and support and provide another opportunity to discuss any questions or concerns. Individuals are reminded that they are welcome to contact their medical genetics providers at any time, for any reason, following the fourth genetic counselling session. In addition to this counselling session, some individuals who receive a mutation-positive PTR may benefit from additional counselling at 6 and 12 months post-result disclosure.

The international predictive testing guidelines recommend that all genetic counselling sessions be conducted in-person, especially disclosure of the PTR [Benjamin et al., 1994; Fox et al., 1989]. Recently, however, the challenge of providing equitable access to predictive testing for individuals living in rural and remote areas has been highlighted given that testing centers are only located in urban centers [Hawkins and Hayden, 2011; Hawkins et al., 2011]. In British Columbia, a rural predictive testing protocol has been developed for persons who live at a considerable distance from the testing centre in Vancouver. Under this model, individuals are only required to come to Vancouver for their first session, which includes a neurological exam; the remaining sessions are conducted by a physician in the individualís community with the support of the multidisciplinary health care team at the testing centre. While novel mechanisms to improve access to predictive testing have been suggested, including the use of telemedicine and web-based education tools, studies that examine whether accessibility is a barrier to predictive testing and the benefits and drawbacks of novel service delivery methods are needed [Hawkins and Hayden, 2011].

Best wishes ...
.
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Old 29-08-17, 05:06 PM   #5
jacqueline
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Default Re: How long did the testing process take

Quote:
Originally Posted by Hoping81 View Post
Hi
Im currently going through the councelling process to get tested for HD. I just wanted to see the sort of time scales everyone experienced when looking at getting tested. I had my initial session back in july and was told that id be back in around a month. But my next meeting is scheduled for october. I realise this process isnt going to happen over night and i dont want it too but just need to get my head around how long this takes.
Emotionally its a rollercoaster. Just these big gaps seem to mess with my head (i almost forget i had this black cloud looming) and then ive got to start it all over again.
Hi Hoping81,
It took my son from the Feb to the end of July to get his full diagnosis.
His two children took that long too. St Mary's at Manchester.
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Old 04-09-17, 11:54 PM   #6
Cupcake
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Default Re: How long did the testing process take

It Cambs it takes approx 6 mths, although you say you feel it's messing with your head, I really think you need the time to go through the full process, to be prepared at the end, in case it is positive.

It was my hubby who was testing, it knocked him for 6 and although I told myself I was ready for the result either way, it was a terrible blow, I can't describe the devastation we both felt.

Don't feel to anxious to know, take your time to prepare your self, there is plenty of time, life goes on either way, it's more important to follow your dreams and live life to the full.

Take care x
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