Quality in genetic counselling for presymptomatic testing — clinical guidelines for practice across the range of genetic conditions

ABSTRACT Presymptomatic testing (PST) is the performance of a genetic test on an asymptomatic individual at risk of a condition to determine whether the person has inherited the

disease-causing mutation. Although relevant guidelines exist for specific diseases, there is no overarching protocol that can be adapted to any disorder or clinical setting in which such

testing is offered. The objective of this European project was to develop a set of coherent guidelines for PST (for adult-onset monogenic conditions) for use by health professionals working

in a range of disciplines, countries or contexts. To ensure the guidelines were appropriate and practice based, we organised a workshop attended by an expert group of practitioners with

relevant health professional backgrounds from 11 countries. Models of service for offering PST were presented, the group then discussed different aspects of testing and the standard of care

required to ensure that patients were prepared to make decisions and deal with results and consequences. After the workshop, several rounds of consultation were used with a wider group of

professionals to refine the guidelines. The guidelines include general principles governing the offer of testing (eg, autonomous choice of the patient), objectives of genetic counselling in

this context (eg, facilitation of decision making), logistical considerations (eg, use of trained staff) and topics to be included during counselling discussion with the patient (eg,

consequences of both positive and negative outcomes). We recommend the adoption of these guidelines to provide an equitable structure for those seeking PST in any country. SIMILAR CONTENT

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FUNDED HEALTHCARE SYSTEM: IMPLICATIONS FOR FUTURE TESTING Article Open access 06 December 2022 INTRODUCTION Presymptomatic testing (PST) is defined as the performance of a genetic test on an

asymptomatic individual to determine whether or not the person has inherited the disease-causing mutation.1 The terms ‘predictive testing’ or ‘susceptibility testing’ may sometimes be used

in the same context, but for the purposes of this paper we will use PST. As recombinant DNA techniques enabled testing of samples through linkage analysis in the 1980’s, PST for a range of

genetic conditions has been possible. For example, testing for Huntington’s disease had been possible via linkage analysis since before 1983,2 although some patients preferred to have a more

accurate direct test,3 which became available after the mutations responsible for this and other neurodegenerative disorders were identified.4 Later, as understanding of familial cancer

syndromes increased, PST was offered to individuals at increased risk of breast and ovarian cancer,5 Lynch syndrome (previously termed hereditary non-polyposis cancer)6 and familial

adenomatous polyposis.7 The information now available about specific disease-causing mutations has enabled PST to be offered for a much wider range of disorders and it may now be provided by

health professionals outside of specialist genetic centres. For example, testing for the mutations that cause hypertrophic cardiomyopathy,8 or maturity onset diabetes of the young9 may be

offered in cardiac and diabetes clinics, respectively. It has been noted that the philosophical and practical approach to offering testing may differ between specialist genetic centres and

other health services.10 It is therefore important that guidance is available on the requirements for PST for adult-onset conditions to ensure patient choice and safety. BACKGROUND

LITERATURE Formal guidelines for offering PST in a clinical context were developed in 1989 and updated in 1994 by the World Federation of Neurology Working Group on Huntington’s disease and

International Huntington’s Association,11 and a second update has been published recently.12 The guidelines are primarily for use with Huntington’s disease but can also be applied for other

neurological conditions (eg, Alzheimer disease, frontotemporal disease, spino-cerebellar ataxia). The tenets of the document are that: the decision to take a test should be voluntary,

without coercion from any other person, informed consent should be sought, the individual should have access to counselling of the highest quality and testing should be offered within

specialist genetic units. Specific and highly detailed recommendations are made about the information to be given during pre-test counselling including information on the test procedure,

alternatives and consequences. Post-test counselling sessions should be planned before the result is given and include the need for the counsellor to initiate contact after 1 month if it has

not been made by the patient. Other authors13 refer to these prescriptive guidelines for use in PST conditions other than Huntington’s disease, for example Panegyres _et al_13 refer to

these in the context of testing for familial Alzheimer disease. The Huntington’s disease model is also consistent with the guidelines adopted for testing for non-neurodegenerative

conditions, such as hereditary forms of cancer14, 15 and cardiogenetic conditions.16, 17 Dufrasne _et al_18 described the use of the Huntington’s protocol in detail after 15 years of

experience in using it in Canada. In summary, the counselling was offered by a multi-disciplinary team comprising medical geneticists, genetic counsellors and psychologists. Before

face-to-face contact the patients discussed their wish for a test by telephone with a psychologist. Following that call, three face-to-face contacts were made, the first (2 h) was with a

psychologist to assess psychological readiness and needs of the patient. In the second (1 h), the patient was seen by a physician and the psychologist, to obtain medical history and confirm

the diagnosis of Huntington’s disease in the family. The third session (2 h) was conducted with a genetic counsellor. If the patient proceeded with testing, the results were disclosed at a

fourth session and a follow-up consultation was arranged by telephone 1 week after the results were given. Of an initial 135 patients who requested testing, 40 withdrew during the pre-test

counselling process. Of these, 18 withdrew after the initial telephone call with the psychologist and the authors attribute this to last minute self-selection, possibly by those who are

highly ambivalent about their desire to be tested. Brain _et al_19 gathered data on the protocols used by 16 genetics centres offering PST for Lynch syndrome. All centres offered a minimum

of one pre-test counselling session, although the range was 1–3 sessions. Where more than one session was offered, the time period between them was four to 8 weeks. Staff of four of the

centres reported, however, that more than one session was often unnecessary and that they had reduced the number of pre-test sessions to one or were planning to do so. A particular point was

made that the situation differed from that of Huntington’s disease, because families seemed more ‘matter of fact’19 (p200) about the testing and did not want the testing procedure to be

needlessly prolonged. In a study of 271 adults tested for a Lynch syndrome mutation, Aktan-Collan _et al_10 noted that participants felt the strongest need for psychological support at the

time of disclosure of the result, suggesting that having a personal friend or family member present might be useful in this regard. However, although bringing a support person to the results

session had been recommended, only 30% of those in the study had done this. This highlights the conundrum between enabling choice and setting firm criteria for testing. In that study,

pre-test counselling had included topics such as the actual mutation, methods of screening for tumours, benefits and disadvantages of testing and emotional responses to testing. At the

post-test session, results were given as well as further reinforcement of information about screening for mutation positive patients and reminder of the population risk of colon cancer for

those who were mutation negative. Although sets of guidelines for offering PST have been developed, these relate to specific disorders or groups of disorders. In the current era of genetic

and genomic health care, PST is available for increasing numbers of diseases, and is provided by health professionals working outside the genetic specialist clinics.8, 9, 20 There is no

overarching protocol or guidance that can be adapted to any disorder or clinical setting in which PST is offered. The objective of the EuroGentest2 project is to ensure that genetic testing

is provided equitably and safely to patients in Europe. One of the deliverables for the EuroGentest2 project is therefore to develop a set of coherent guidelines for PST that can be used by

health professionals working in a range of countries or contexts to ensure that patients are appropriately prepared for such testing and the consequences of the test. METHODS The leaders of

the EuroGentest2 project work package are experienced clinical health professionals in the field of genetics. However, we felt it was important to utilise the experience of a wide range of

practitioners from across Europe and so we used an expert group to develop guidelines for counselling when offering PST for adult-onset monogenic conditions. PARTICIPANTS Experienced

practitioners were invited to attend a workshop to discuss, debate and formulate the key requirements for PST counselling. Practitioners with relevant professional backgrounds from 11

countries attended (Table 1). Of these, a core group of those who were highly experienced in PST counselling focussed on development of the guidelines. However, a wider group of

practitioners contributed through discussion of the outputs. PROCESS All participants were made aware of the focus of the workshop in the invitation to attend. A number of relevant

publications17, 21, 22, 23 were provided to each participant several weeks before the workshop and they were asked to read these before arrival to help them prepare for the discussions.

During the first session of the workshop, presentations were made by a medical oncologist offering PST in the context of familial cancer syndromes, a medical cardiologist providing PST to

those at risk of cardiac genetic conditions and a nurse consultant who pioneered PST for monogenic forms of diabetes and set up a network to train professionals to offer such testing

nationally. All three presented models of service for offering PST. The entire group then discussed the terms of reference for the guidelines before splitting to discuss different aspects of

service. The core group worked specifically on quality of genetic counselling to support PST. Twice during the workshop the groups reconvened for discussion and feedback from the wider

group on the developing guidelines. There will be occasions when PST may be offered to or sought by minors,24, 25 but the expert group decided not to specifically address this issue as other

guidance exists, to which practitioners should refer.26, 27 Following the workshop, the guidelines were circulated to all members for further comments and minor revisions were made. RESULTS

The objective of counselling for PST is to enable the patient to make an informed and autonomous choice, to adjust to the results of the test (should the test be performed) in the context

of his or her own life and utilise the results for health care management. For the purposes of these guidelines, PST is defined as testing of an asymptomatic adult for a mutation for a

specific monogenic disorder. In these cases, where possible it is expected that the laboratory staff will aim to use a method that limits results to the clinical question being answered.

However, if targeted mutation testing is not feasible, the possibility of other findings must be discussed with the patient before the test is performed and a disclosure strategy for any

unexpected (incidental) findings agreed with the patient (for example, if whole genome sequencing is used, it would be possible to identify a BRCA1 mutation in an individual being tested for

a neurodegenerative condition). The principles provide a roadmap to autonomous choice. These include: (1) establishment of a respectful relationship between counsellor and patient, in which

the patient’s expectations, values and agenda have priority (2) employment of appropriately trained and skilled people to provide the counselling (see relevant documents) (3) provision of

‘adequate’ information (see content below) based on patient’s needs and expectations, to include: * disease-specific information * psychological impact of testing * social implications of

testing * legal implications of testing (4) enabling the patient to weigh the consequences and benefits in the context of his/her life (with relation to thoughts, values, beliefs, feelings)

(5) Counselling that leads to autonomous choice (6) Counselling undertaken in the context of a professional code of conduct. OBJECTIVES The objectives of making PST available to unaffected

(usually adult) family members at risk are to: (1) facilitate the patient in making his or her own decision about testing by giving information and supporting exploration of the context and

consequences of the decision they make (2) provide the opportunity for self-management re: * health care * personal wellbeing and adjustment * reproduction * family communication. LOGISTICS

It is important that an individualised approach is taken regarding the number and timing of counselling sessions, based on stage of maturation of patient rather than the particular disease.

In general, a verbal (and if appropriate, written) summary of the issues discussed in counselling should be made at the end of each session and a letter with relevant information about the

disease and risk transference patterns for the family should also be provided to facilitate family disclosure. The counsellor is responsible for making appropriate referrals and providing a

comprehensive handover to other health professionals, including relevant psychological social or legal issues. The plan for co-ordination of care should be agreed with other health

professionals. It is assumed that health professionals providing PST will be appropriately trained and possess the relevant competences.28 It is particularly important in the context of PST

that health professionals recognise their own limitations and are able to make referrals to other health professionals (such as psychologists or psychotherapists) if required to support

assessment of the patient or to provide the patient with psychological support. (1) Pre-test counselling Pre-test counselling is preferably done via a face-to-face conversation. The

diagnosis, family history and risk to the individual will provide a foundation for the discussion. It should also include: * information about the test and testing process, including

likelihood of definitive results and what will happen to the remainder of the DNA sample after the test is performed * the scope of the test and what it will show (and what it will not) *

the patient’s perspective and wishes for and expectations of a test * information about waiting time for test * a clear indication of time between the sample being taken and disclosure of

results * opportunity to have a support person present during the pre-test, disclosure session and post-test sessions * consent for testing and documentation of the decision * an agreed

method of conveying results (e-mail, phone, face-to-face, letter) * the plan for follow-up after the results disclosure * plans for disclosure to other family members * information on

support groups, surveillance and/or treatment * specific issues of relevance to the particular disease * implications for offspring (where applicable, to include discussion of reproductive

choices) * meaning of the possible results (technical and personal significance) * relevance of the results to other relatives who may not have requested testing * discussion of options

available regarding screening and/or treatment and which of these could be used regardless of whether PST is performed * discussion of psychological issues including coping with disclosure

of test results, removal of uncertainty, residual uncertainty (where appropriate) and dealing with changed genetic status * discussion of social issues including impact of testing (or not)

on employment, insurance, personal and family relationships, privacy and confidentiality. This should include the implications of testing and/or results for the wider family, including

partner or spouse * the availability of follow-up and support after testing * invitation for questions and offering of additional information as required. The order of priority for

discussion of topics will vary depending on condition or family situation. (2) Post-test disclosure and counselling Post-test counselling should include: * appropriate disclosure of results,

as previously agreed with patient * discussion of plan for future contact * re-iteration of information on support groups, surveillance, treatment, referrals to other practitioners or

services and, where appropriate, participation in research projects * the availability of follow-up and support. In addition, some of the topics covered in the pre-test session may need to

be revisited during the post-test counselling sessions; for example, the implications for the patient and relatives and discussion of the psychological impact of changed genetic status. Note

that the patient may prefer to receive results at a face-to-face meeting, by telephone, by letter or by electronic communication. This should be agreed during pre-test counselling. If the

results are not delivered in person (face-to-face or by telephone), counselling should be offered. This should be offered regardless of whether the patient has a positive or negative

mutation result, as it has been shown that patients who are mutation negative can also struggle with the psychological impact of the results.29 DISCUSSION PST has become available for a

great variety of disorders. Where initially PST was offered mainly in the context of untreatable diseases (for the sake of pre-warning of the condition and psychological preparation for the

future), it is now also used in situations where there is a greater perceived medical benefit from testing (eg, for conditions such as hypertrophic cardiomyopathy,8 maturity onset diabetes

of the young9). It is important in all situations that individuals still make individual choices based on their own values, beliefs and preferences. As the study by Dufrasne _et al_12

indicated, even those who actively request PST may be ambivalent about testing and appropriate counselling must be available to enable them to make informed choices. The overarching set of

recommendations presented in this paper are consistent with those developed for specific monogenic neurodegenerative conditions10, 11 such as Huntington’s or Alzheimer disease, hereditary

forms of cancer and hereditary forms of hereditary cardiac conditions, with the emphasis on voluntary action on the part of the patient and informed choice. We emphasise that where

appropriate disease-specific guidelines exist, they should still be used. However, there are a great many conditions for which PST is or will be available for which no such protocols have

been prepared. The objectives, counselling content and logistical requirements have been documented here to provide a template for PST in a range of professionals and clinical contexts. In

developing these guidelines, the expert group deliberately focussed on the principles and objectives of PST rather than making prescriptions in terms of numbers of sessions of counselling.

This enables practitioners to use their own professional judgement to individualise the process, as shown to be necessary by Brain _et al_13 The opportunity for support during and after

disclosure is emphasised as this has been identified as an area of need by patients undergoing PST.14 The guidelines emphasise the involvement of appropriately trained professionals in

offering PST. Although this will often mean genetic specialists such as medical geneticists or genetic counsellors, increasingly specialists in other secondary care settings will be

providing PST. Their particular specialist knowledge is an obvious advantage in discussing the potential natural history of the disease and preventive measures or management. However, the

experience of practitioners working in other fields may differ in some respects from those working in genetics. For example, genetics specialists are constantly required to use an approach

that involves consideration of the immediate and wider family30 and because of the history of genetic counselling may be more practised in using a nondirective approach.31 It is therefore

essential that all health professionals providing PST, whether in clinical genetics or other disciplines, should have appropriate education and training in the requisite skills to ensure

patients are able to exercise freedom of choice and genuinely consider the implications of testing for themselves and their families. To this end, a set of core competences in genetic health

care and relevant learning outcomes have been written for professionals working in a range of disciplines in primary, secondary and tertiary settings.28 Of particular importance in the

context of PST are the competences related to appropriate counselling skills and ability to offer psychological support to the patient. In order to attain these skills, specific education in

counselling skills is required, as well as ongoing counselling supervision for professionals undertaking these tasks. CONCLUSIONS These recommendations have been produced by specialists in

Europe for use in any setting where PST for genetic disorders caused by a single gene mutation is offered. The objective was to ensure testing was provided in a way that facilitated patient

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Test_ 2001; 5: 187–191. Article  CAS  Google Scholar  Download references ACKNOWLEDGEMENTS This study was funded under the EuroGentest Co-ordination Action 2011 — EU Contract no.:

HEALTH-F4–2010–2614692 project. We acknowledge the support of Tessel Rigter in helping to organise the workshop. The workshop participants who contributed greatly to the guidelines were:

Inga Bjornevoll, Ignacio Blanco, Angus Clarke, Vaclava Curtisova, Lidewij Henneman, Anke Liebbrandt, Christine Patch, Nadeeem Qureshi, Carolyn Rooryck-Thambo, Maggie Shepherd, Maria Soller,

Vigdis Stefansdottir. We also thank the following persons for their additional comments: Johan Brandt, Martina Cornel, Helena Kaariainen, Ulf Kristoffersson, Bela Melegh,Marcel Nelen,

Feliciano Ramos, Jorge Sequeiros, Carla van El. AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Faculty of Health, Education and Society, Plymouth, University, Taunton, UK Heather Skirton, 

Lesley Goldsmith & Leigh Jackson * Centre for Human and Clinical Genetics, Leiden University, Medical Centre, Leiden, The Netherlands Aad Tibben Authors * Heather Skirton View author

publications You can also search for this author inPubMed Google Scholar * Lesley Goldsmith View author publications You can also search for this author inPubMed Google Scholar * Leigh

Jackson View author publications You can also search for this author inPubMed Google Scholar * Aad Tibben View author publications You can also search for this author inPubMed Google Scholar

CORRESPONDING AUTHOR Correspondence to Heather Skirton. ETHICS DECLARATIONS COMPETING INTERESTS The authors declare no conflict of interest. RIGHTS AND PERMISSIONS Reprints and permissions

ABOUT THIS ARTICLE CITE THIS ARTICLE Skirton, H., Goldsmith, L., Jackson, L. _et al._ Quality in genetic counselling for presymptomatic testing — clinical guidelines for practice across the

range of genetic conditions. _Eur J Hum Genet_ 21, 256–260 (2013). https://doi.org/10.1038/ejhg.2012.174 Download citation * Received: 26 April 2012 * Revised: 25 June 2012 * Accepted: 06

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KEYWORDS * presymptomatic testing * predictive testing * guidelines * recommendations