Counselling Issues in Predictive Testing
Ms Roslyn Tassicker, Melbourne, Australia

Non-consensual predictive testing, that is, where requests for predictive or prenatal testing may reveal a result for another person who does not want to know, has complex counselling and legal issues. Does the clinician have a legal or clinical responsibility to a person who has not contacted the genetics service?

Two requests were received for prenatal testing by women whose partners are at 50% risk but do not want testing. A positive prenatal result gives an answer for the partner. There is no clear legal advice regarding this issue.
Request for testing by people at 25% risk when parent at 50% risk does not want to know is another situation. The guidelines recommend involving both parties in counselling but this is not always possible. There may be conflictual relationship between parent and son/daughter and there is great potential for harm.

Two cases of identical twins where one twin wanted the test and the other did not have arisen. In both cases, legal advice was to go ahead with the tests and to warn the non-tested twins of possible harm and encourage them to seek support from genetic services/
These are extremely complex and challenging counselling situations.

Pre-implantation Genetic Diagnosis
Ms Alison Lashwood, London, UK

Preimplantation genetic diagnosis (PGD) for HD commenced in the UK in May 2002. Prospective parents undergo extensive counselling to discuss the process of PGD, including the welfare of children born into a family where one parent will become symptomatic.

Nine couples have undergone treatment with four couples becoming pregnant. One miscarried triplets, one had twins, two couples have ongoing pregnancies and five couples have not achieved an ongoing pregnancy.

Despite a misdiagnosis risk of 2-5% per embryo, all couples decided against confirmatory prenatal diagnosis and under the protocol no confirmatory testing is possible at birth.

Despite its complexity, PGD offers an acceptable alternative to routine prenatal diagnosis.

PEG Feeding and End-Stage HD
Dr Sheila Simpson, Aberdeen, Scotland

Feeding using percutaneous endoscopic gastrostomy (PEG) has been suggested as a means of providing additional calories in a safer and more reliable fashion. PEG feeding raises a number of ethical issues because it is a form of artificial feeding and it does not remove the risk of aspiration. It will not cure HD, but it may sustain life. None the less it is often put into place with little or no discussion with the patient or his family. There has been little debate about withholding or withdrawal of such feeding which some view as treatment and others as basic care, yet the dilemma occurs frequently as the HD patient deteriorates.

In a survey of members of Scottish HD families, only 6.9% had discussed PEG feeding with their doctor. Although the patient's wishes should override doctor's, it is often too late and there have been some bad situations.

It is recommended that patients and their families be involved in decision making well ahead of time and that the possibility of 'living wills' and 'power of attorney' be investigated.
There is the need for international guidelines on these issues.

Sexual Behaviour in HD
Dr David Craufurd, Manchester, UK

Previous reports in the medical literature, including that of Huntington himself, have suggested that HD is associated with hypersexuality. However the only study to date which examined the issue systematically using modern research methods found no evidence to support this (Fedoroff et al., 1994).

Dr Craufurd and his colleagues investigated libido and sexual behaviour as part of a broader study of behaviour in patients with HD.

The study involved 134 HD patients, representing all stages of HD. The following changes in sexual behaviour were reported:
62% loss of libido
6% sexual disinhibition
5% demanding behaviour

There was significant correlation between loss of libido and progression of disease and significant correlation between sexual behaviour (that is demanding and/or disinhibited) and behavioural features such as irritability, aggression, lack of insight, obsessiveness, perseveration.

The conclusions reached are: hypersexual behaviour is rare in HD and affects a small minority of cases only. Loss of libido and hyposexuality are much more common and correlate strongly with other measures of disease progression.

Reduced Penetrance Alleles in HD
Dr Oliver Quarrell, Sheffield, UK

Four types of predictive test results may be recognised: <26 repeats is unequivocally normal; 27-35 repeats is normal but in a range which may give rise to abnormal expansions in future generations; 36-39 repeats is abnormal but the individual may or may not develop the condition; 40 or more repeats is unequivocally abnormal. There are no empirical risk figures for individuals with a result in the 36-39 range. A survey of UK laboratories indicated that there had been at least 170 results in this range from both pre-symptomatic and diagnostic tests.

Ethical committee approval has been obtained to allow anonymous collection of data on age of onset or age last known to be asymptomatic for each case with a result in the reduced penetrance range. As part of the study, DNA samples will be re-analysed. All 21 UK centres have agreed to participate in the study.

Information collection started in Feb 2003; so far, data is available on 41 cases: 26 are affected with ages of onset ranging between 38-80 years; 15 cases are asymptomatic with ages ranging between 35- 7l years; 16 of the 41 cases are or would have been asymptomatic at the age of 60 years. Data collection will continue for the rest of the year.

Reproductive Decision Making Before and After Predictive Testing
Fiona Richards, Sydney, Australia

This study, an update of an unpublished 1997 study, retrospectively examines the reproductive decisions of 373 adults who underwent predictive testing for HD in Sydney between 1990 and 2002. Data were collected from genetics records and follow up contact. The total group consisted of 175 males and 198 females. Of these, 222, (59.5%) had one or more pregnancies prior to predictive testing.

The results of this study support previous research that reports a low uptake of prenatal testing and other reproductive options.

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The Effect of Huntington's Disease on the Ability to Respond to Conflicting Spatial Stimuli
Nellie Georgiou-Karistianis, Melbourne, Australia

The conclusions from this study support the notion that cognitive deficits in HD may stem from abnormalities of the major pathways interconnecting the basal ganglia and the frontal lobes.

Study of Juvenile HD Patients of Italian Origin
Ferdinando Squitieri, Pozzilli, Italy

This study analyzed a population of juvenile HD subjects of Italian origin (n = 57). The main aim of the study was to analyze the gender effect of the affected parent on age at onset and clinical presentation of offspring with juvenile HD. The findings suggest the occurrence of a weaker effect of the paternal mutation on juvenile age at onset in our population, possibly amplified by other genetic factors.

Homozygosity in HD
Ferdinando Squitieri, Pozzilli, Italy

HD patients with two copies of the HD gene are very rare. As this genetic condition is rare and its implication with the severity of HD has never been pointed out so far, it has never been contemplated by the predictive testing (PT) programs. It would therefore be of relevance for international guidelines and predictive testing programs to document the existence of unusual genetic conditions which may require different strategies in the genetic counselling approach according to the possible diverse scenarios occurring within the families.

This study documented the existence of 14 subjects with two copies of the HD gene. Two of them were unaffected and, therefore, in a presymptomatic stage of life while some of their relatives had 100% risk to be mutation carriers. Two patients came from families from small areas/communities of Northern Italy and Israel, where marriages occurred among relatives potentially contributing to HD clusters. A patients' tissue bank has been set up and potential biological differences are being investigated.

Assessment of Change in Cognitive Function
Dr Julie Snowden, Manchester, UK

Cognitive impairment is a core feature of HD. Neuropsychological tests that are sensitive to the presence of HD are well established. However, longitudinal studies of the natural evolution of cognitive change have been relatively limited, so that it is much less clear which tests are most sensitive to change in cognition over time. We reviewed existing longitudinal studies from the US and Europe, examined the types of measures that were used and identified those measures demonstrated to be most sensitive to change. Our own study of asymptomatic people who carry the HD mutation reveals complementary findings. We argue that simple rather than sophisticated, cognitively demanding neuropsychological tests provide the best tools for measuring change in HD and for use in clinical trials.

Walk and Drink Times.
Dr Elizabeth Howard, Manchester, UK

Reliable measures of motor progression in Huntington's Disease are essential for the evaluation of new treatments now being tested. The Unified Huntington's Disease Rating Scale (UHDRS) is generally accepted as a sensitive tool for this purpose.

In practice, however the utility of the UHDRS for longitudinal studies may be limited, particularly where frequent assessments are required. Scores may be affected by variation in chorea from one appointment to the next due to the impact of emotional state on the severity of involuntary movements. The gradual decline of involuntary movements in late stage disease may also cloud the issue.

In addition to the UHDRS motor scale we have used two further measures for evaluation of motor progression of HD. Both are simple quantitative assessments which require no special equipment to carry out. They are also easily reproducible by non-medical personnel. Patients are timed as they walk a fixed distance (including a 180 degree turn) as fast as they can.

They are also timed a they drink 130mls of water as fast as possible. Data were collected from 97 individuals affected by HD of whom 47 were male and 50 female. Ages ranged from 22 to 81 years and duration of illness varied from 1 to 21 years. The shortest walk time was 10 seconds and the longest 85 seconds. There was even greater variability in drink time from 5 to 330 seconds.

There was a highly significant correlation between duration of illness and both walk time and drink time as well as between the two measures themselves. These new measures can therefore be used as simple and reliable additions to the UHDRS motor scale when considering longitudinal outcomes.

Social Cognition in Huntington's Disease
Dr Jennifer Thompson, Manchester, UK

Altered social conduct and a breakdown in interpersonal relationships are prominent features of HD. Patients are often described as being self-centred, demanding, mentally inflexible and lacking in empathy for others.

The factors underlying this breakdown in social cognition remain poorly understood. The aim of this study was to investigate the ability of HD and frontotemporal dementia patients to make social inferences.

A novel social cognition task was developed, which aimed to minimise demands on other cognitive functions. Patients were presented with simple, illustrated vignettes that depicted everyday social situations and were required to answer a series of questions tapping their ability to understand the beliefs, thoughts and feelings of the characters depicted, and to draw inferences about the social situations, which necessitated going beyond the information given.

The results demonstrated that although both patient groups were impaired relative to controls, the pattern of errors differed between the two groups. As in our previous study, the HD patients were particularly impaired in the ability to draw appropriate inferences from social situations. The finding that HD patients make faulty social inferences has implications for understanding the breakdown in social behaviour in HD.

New Neurons in HD
Maurice Curtis, Auckland, New Zealand

The recent demonstration of endogenous stem/progenitor cells in the adult mammalian brain raises the exciting possibility that these undifferentiated cells may be able to generate new neurons for cell replacement in neurodegenerative diseases such as HD. This is the first study to map the pattern of stem/progenitor cell proliferation in an area of the brain adjacent to the caudate nucleus of the basal ganglia and provides new evidence of the pattern of neurogenesis in the human brain.

HD in Japan
Dr Kaori Muto, Matsumoto, Japan

The prevalence of HD in Japan is 1 per 100,000 compared with 6 per 100,000 in populations of European origin.
In 2001 there were 604 people with HD in Japan and the Government covers medical care.

The Japanese HD Network (JHDN) is a web-based support group for HD families
A questionnaire survey and interviews were conducted with some members of JHDN. Most at risk people had not had predictive testing. The main concern for people at risk is discrimination in marriage prospects.

Caregiving is a major issue in Japan.
Efforts to raise awareness of HD in Japan have included:
Translation of Alice Wexler's book 'Mapping Fate' into Japanese.
TV documentary on HD in September 2003 (first ever shown on Japanese TV).
Translation of UHDRS into Japanese so Japanese clinicians can contribute to HSG research.

Treatment of HD Using Essential Fatty Acids
Dr Krishna Vaddadi and Dr Philip Dingjan, Melbourne, Australia.

The brain is unique in high concentration of long chain, highly unsaturated fatty acids (HUFA) which play an important role in the structure and function of brain tissue.

Highly unsaturated fatty acids have been implicated in a number of neurological conditions from Alzheimer's disease to Huntington's disease. In one treatment case example, serial neuropsychological assessment data over a six year treatment period show limited variation in scores but not progressive deterioration in measures of executive and new verbal learning ability. At the last assessment, all test scores were within one standard deviation of baseline values. The lack of deterioration across such a long time scale, and with a 20 month gap between the last and the penultimate assessment times, suggests that treatment with HUFA therapy has been clinically beneficial.

Innovative Approaches to Improving the Acceptance of Texture Modified Diets
Karen Keast, Sydney, Australia

We have looked at innovative approaches to enhance the acceptance of texture modified diets and to reduce the impact of such diets on people's quality of life. In 1999, a resource package called "Shop to Swallow" was launched. It provided people with a range of foods available in the supermarket suitable to each of the soft, minced and puree textured diet categories. Photographs provided a visual display of foods to assist with client awareness and the food lists assisted people with planning and shopping.

In 2002, a survey of popular fast food outlets and restaurant chains was conducted. A selection of foods were assessed and categorised into each of the soft, minced and puree diet textures. This resource will be compiled in a similar format to "Shop to Swallow".

Food moulds alter the appearance of the pureed food to more closely resemble typically prepared food. A pre and post implementation study was conducted in June 2003. Moulded puree meals show promising preliminary results in enhancing the visual presentation of texture modified food without compromising taste and ease of swallowing.

Acknowledgements: Robyn Kapp, AHDA(NSW); Fiona Richards, The Children's Hospital Westmead; WCHD Congress Program Book.

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GENETIC INFORMATION AND LIFE INSURANCE PRODUCTS

Genetic information which includes a family medical history and the results of predictive genetic tests may have implications for your options for insurance cover such as life, disability, trauma, business and insurance relating to bank loans. Predictive genetic testing refers to testing in a person who currently does not have symptoms or signs of disease, but may be at increased risk due to their family history. Predictive genetic testing is currently available for a limited number of inherited conditions, including Huntington Disease.

Concerning insurance
The Investment and Financial Services Association Ltd (IFSA), an organisation representing most insurance companies in Australia, has a policy on genetic testing and life, disability and trauma insurance. Under this policy, you will not be required to undergo a predictive genetic test in order to obtain insurance or to renew a policy.

IFSA's policy is explained in an 8-page fact sheet "Life Insurance and Genetic Testing in Australia". It is available from IFSA by telephoning (02) 9299 3022.

Policy applications usually require a disclosure of any known genetic information. This information, depending on the condition involved, may or may not lead to higher (non-standard) insurance premiums, a reduced period of coverage, an exclusion for one or more medical conditions, offer of an alternate insurance product, deferral or denial to insure you.

Costs of insurance, and the ability to obtain insurance cover, may vary between different companies depending on your risk. You may wish to make applications to a range of companies at the same time. An insurance broker or agent may be helpful in this process.

Insurance for a limited amount may be available with your superannuation plan. This is called "group insurance" and therefore not subject to health information , including family history and genetic testing results. However if you require insurance for a higher amount, the application will require disclosure of this information.

Insurance policies offered by Life Insurance companies in Australia are "guaranteed renewable" so that you only have to apply for the cover once and are not subject to providing any other information for the period of cover. Under law, in the time between your application for this type of policy , and it being approved and accepted, you are required to inform the insurance company of anything that may impact on their offer of insurance. Once this type of policy has been issued you are no longer obliged to inform the company of any changes in circumstances, such as the result of a predictive test. Nevertheless, if a predictive genetic test result indicates you are at lower risk than estimated based on your family history alone, you may wish to inform your insurance company so that your policy can be reassessed with this new information.

However, insurance policies that are offered by General Insurance companies covering "sickness and accidents" are renewable during the time of cover of the policy. At every renewal period, you will be required to disclose any information that you now have, including any change in genetic information (family medical history or predictive genetic test results). With these policies, each renewal period is like making a new application.

Under the Insurance Contracts Act 1984, a person applying for insurance has a duty "to disclose to the insurer every matter that you know, or could reasonably be expected to know, that is relevant to the insurer's decision ...". Some will ask for more details than others. You are obliged to provide answers to the questions asked honestly and to the best of your knowledge.

All information regarding predictive genetic testing and insurance issues should be carefully considered.
Involve your GP, specialist or geneticist if necessary in negotiations with the insurance company

1. Where you have not yet had a blood sample taken for a predictive genetic test.

You may wish to investigate your insurance options before considering predictive genetic testing. Securing a policy may take several weeks or more.

Some companies ask whether you have sought advice or counselling about your health or future health. This question would include attending genetic counselling to discuss your risk based on your family medical history but where you did not have a sample taken for a predictive genetic test.

While this may highlight your concerns about a family history, you are already required to provide to the potential insurer what you know about the health of your parents, brothers and sisters ( first-degree relatives).
In fact, sometimes the genetic counselling may clarify that a person's family history does not indicate that they are at potentially high risk for a certain condition and this can be helpful when applying for insurance.

2. Where you have already given a sample for a predictive genetic test and:

a) Your sample has not yet been analysed by the laboratory:

As with all types of medical treatment, a person can withdraw their consent to a procedure at any time. You can withdraw your consent to the sample being analysed at any time prior to the laboratory starting the process.

In this situation, you can expect to have to disclose to a potential insurer that fact that you gave a sample for a predictive genetic test but that you have withdrawn from the testing process and do not have a result. It is unclear how this will impact on your insurance application. However the insurance companies are bound, under IFSA's genetic testing policy, to respect your right "not to know" your predictive test result (see #6 Dealing with insurance companies).

Sometimes a person will give a sample for analysis to be done in the future. This is called "DNA banking". If a person provides a sample for DNA banking they have not yet undergone a genetic test.

b) The laboratory has analysed your sample and you are waiting for your result.

If you have provided a sample for testing and the laboratory has analysed the sample, it is assumed that you have undertaken a predictive genetic test. You can expect to have to disclose to your potential insurer the fact that you have had a predictive genetic test.

In this situation your insurance company may wait for your result to be available before proceeding with the application.

c) The laboratory has analysed your sample but you have chosen not to have your result:

There may be a number of reasons why you would choose not to have your predictive genetic test result. For example, a person may have a test only for the benefit of other family members but will not want to know their own result.

If you have chosen not to receive your results, your obligation to disclose to the insurance company that you have had a test is not clear. However the insurance companies are bound, under IFSA's genetic testing policy, to respect your right "not to know" your predictive genetic test result (see#6 Dealing with insurance companies).

3. Where you have received your predictive genetic test result before securing insurance cover:

The insurance company will require that you make available the results of any genetic test results.

4. Where a relative has had a predictive genetic test and the test result is known to you:

When applying for insurance, you are required to disclose any health information that you know about yourself, parents, brothers and sisters, which is relevant to an assessment of your risk. This would include past and present health problems and predictive genetic test results but would not include providing personally identifying information like your relatives' names.

You will also generally be asked to provide written consent to your potential insurer for your doctor to provide any information about you known from your medical record. if there is information about a relative's genetic test result in your medical record, your doctor may be obliged to disclose the test result information. In your consent you may request that your doctor does not disclose any personally identifying information about your relatives.

5. Research Projects

You do not have to disclose to your potential insurer that you have participated in a research project except in the following circumstances:

a) The research protocol states that during, or at the completion of the research project, you will receive your personal test result:

You can expect to have to disclose the fact that you have participated in the research. If you have the result, you can also expect to have to disclose it.

b) The research protocol states that you will not be given your personal test result, but you will be informed if the family test result might be important to your future health, and given the opportunity to investigate your options further through a clinical service.

You do not have to declare your participation in the research project until you are informed that the research has provided information that may be important to your future health. Once you have received this information, you are now aware of a matter that the insurer may consider relevant, and you can expect to have to disclose this information in your application for a policy or a renewal.

If you to choose to undergo a further predictive genetic test in a clinical setting, you can expect to have to disclose your test results to a potential insurer if you are applying for or renewing a policy.

6. Dealing with insurance companies

Find out if the insurance company you are dealing with is a member of IFSA and therefore bound by the IFSA policy. If the company is not a member of IFSA, inquire about their policy regarding genetic testing.

If advised by an agent/broker that an insurance offer may be declined, deferred, offered at a non-standard rate or impacted on the basis of a particular genetic test result, check that this advice has been received from the company's underwriter in writing and request a copy.

You can discuss the insurance company's decision with your genetics specialist who may be able to explain to you the reasons for the decision, and if necessary can discuss the decision with the company's Chief Underwriter or Chief Medical Officer.

If experiencing difficulties with your insurance company over your application or renewal, follow the Internal Disputes Resolution process each company has documented in their product disclosure brochure - this is the brochure that contains the application form.

Acknowledgements: This article has been reproduced from the brochure "Genetic Information and Life Insurance Products in Australia" which was produced by The Centre for Genetics Education, with the assistance of
Fiona Richards, Senior Social Worker, Dept of Clinical Genetics, The Children's Hospital at Westmead and Jennifer Blackwell, Executive Officer, NSW Genetics Service.

Copies of the brochure are available, free of charge, from
The Centre for Genetics Education
PO Box 317
St Leonard's NSW 1590
Tel: (02) 9926 7324

Reprinted from:
"Gateway" Australian Huntington's Disease Association 9NSW) Inc. official Newsletter
(July/August 2003)

Shoot for the moon.
Even if you miss it,
you will land
among the stars.

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FUNDRAISING

Community Assistance - We have received, and gratefully acknowledge major financial assistance from the following donors:

J.M. Bridson
B. Gillespie
A. Harding Smith
P. Parikka
G. Phillips

The Cookie Drive proved a successful fundraiser. $740.00 was raised due to the many orders received from our members. Thank you for a great effort.

The Ipswich State Emergency Services raised over $1100.00 at their recent fundraising day. Proceeds were forwarded to the Association in December. Our sincere thanks and congratulations are extended to the SES at Ipswich and Goodna for what they achieved on the day and also for their ongoing commitment to families in the Ipswich area. Representatives from the Association who attended enjoyed the friendship and generosity extended to them.
Thank you to Jim Cooper for nominating the Association as the charity for this fundraising event.

* * * * * * * * * *

The Rotary Club of Acacia Ridge has supported the Association for many years, and didn't let Christmas pass without adding to their wonderful assistance during 2003. In December, the 2 Rons and Bob delivered an electric wheel chair and chair scales to the HD Centre and they were left in no doubt how enthusiastically these items were received.

The Christmas Hamper Raffle was won by Mrs Bartlett, ticket number 1179 with proceeds to the Association of $380.00.

In addition, the Rotary Club also donated $1000.00 to the Association for assisting them with their recent book sale.
So once again to our friends at the Acacia Ridge Rotary Club, we do appreciate your thoughtfulness and please accept our sincere thanks on behalf of the many families who benefit from your generosity.

* * * * * * * * * *

The Brisbane City Council extended an invitation to the Association to collect funds at the Brisbane Gives Donation Station at the Christmas Charity Markets. Through the efforts of Carol and Gwen, $287.00 was raised. Great effort girls! Many thanks also to the Brisbane City Council for giving us the opportunity to collect and to raise awareness of Huntington's Disease.

Future Fundraising Activities -

Movie Night - 12TH March. Guaranteed to be a fun night so please talk to your family and friends and join us for an entertaining evening. The movie title is yet to be decided; however it will suit the whole family. Ring Barb at the HD Office for more details.

Sausage Sizzle at Bunnings, Cannon Hill - 3rd April. We expect this to be a very busy day, and welcome any assistance offered by readers. If you can volunteer your time, give Barb a ring at the office.

The efforts of staff, Committee Members and volunteers during 2003 were rewarded with a good result in fundraising. Your support will ensure that we can go that step further in 2004.

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