Toward genetic counseling practice standards for diagnostic testing in amyotrophic lateral sclerosis and frontotemporal dementia

Figures & data

Table 1 Expert definitions and recruitment.

Expert group category	Genetic HPs	HPs outside genetics	Consumers (patient or family experts)
Definition	Clinical genetics health professional experts who have experience providing genetic counseling or diagnostic testing for ALS/FTD (e.g., genetic counselors, clinical geneticists, genetic nurses)	Health professional experts specializing in areas outside of clinical genetics who have experience providing genetic counseling or diagnostic testing for ALS/FTD (e.g., neurologists, palliative care physicians, psychologists, psychiatrists)	Staff of ALS/FTD support organizations who are familiar with the diagnostic testing experience of ALS/FTD families	People with ALS/FTD and their family members who have experienced genetic counseling regarding diagnostic testing (regardless of whether they proceeded with testing)
Eligibility requirements*	Worldwide		Australia only
	>2 years of experience working in the area and >5 genetic testing and/or counseling discussions about ALS/FTD per year or >10 discussions over their career			Personal experience of diagnostic testing genetic counseling for ALS/FTD
Recruitment	Purposive
	Corresponding authors of papers published on the topic of genetic counseling and/or testing for ALS/FTD (sourced from primary author’s systematic literature reviews(2,20)) or key clinical contacts from relevant organizations		Key contacts from recruiting organizations for previous study (unpublished) (e.g., Dementia Australia, MND Australia and state-based associations)	Previous study participants (unpublished) who were eligible and had consented to be contacted about relevant future research projects
	Snowball: All possible participants were asked to share the invitation email with others who may be eligible^#
	Contact details of relevant possible participants were forwarded directly to the primary author to contact			N/A: all possible participants had to contact the primary author directly

N/A: not applicable; HP: health professional; *: constitutes adequate experience for the purpose of the study; ^#: Although no patients and family members were recruited through snowball sampling, the protocol required that potential participants were screened first by the primary author by telephone or email to confirm their eligibility.

Table 2 Study participant demographics.

Expert group category	Genetic HPs		HPs outside genetics		Consumers: association staff		Consumers: patients/ family members
TOTAL	25		10		5		6
Participant type
Genetic Counselor	21		–		–		–
Clinical Geneticist	4		–		–		–
Neurologist	–		8		–		–
Psychologist	–		1		–		–
Geriatrician/Care of the Elderly Physician	–		1		–		–
ALS/FTD association staff	–		–		5		–
ALS Patient	–		–		–		1
Relatives with ALS	–		–		–		2
Relatives with FTD	–		–		–		1
Relatives with ALS and FTD	–		–		–		2
Age range
20-29	1		0		0		3
30-39	5		2		1		2
40-49	10		2		1		0
50-59	6		3		2		1
60-69	2		3		1		0
70+	1		0		0		0
Gender
Male	0		4		1		2
Female	25		6		4		4
Country
Australia	8		2		5		6
USA	11		2		–		–
Canada	2		2		–		–
The Netherlands	2		1		–		–
Scotland	1		0		–		–
New Zealand	1		0		–		–
Ireland	0		1		–		–
Italy	0		1		–		–
France	0		1		–		–
Years of experience	ALS	FTD	ALS	FTD	ALS/FTD
None	0	2	1	1	0		–
<2 years	3	4	0	0	2		–
2-5 years	5	6	2	2	2		–
6-9 years	8	5	0	0	0		–
10-19 years	5	4	3	6	1		–
20+ years	4	4	4	1	0		–
Years of experience	Clinical	Research	Clinical	Research
None	0	2	0	1	–		–
<2 years	1	4	0	0	–		–
2-5 years	2	8	1	1	–		–
6-9 years	5	4	1	2	–		–
10-19 years	10	4	3	2	–		–
20+ years	7	3	5	4	–		–
Patients/families seen per year	ALS	FTD	ALS	FTD	ALS	FTD
None	0	2	1	1	0	1	–
1-5	5	4	2	1	1	3	–
6-10	1	5	0	3	0	1	–
11-20	8	8	0	2	1	0	–
21-49	4	2	0	3	1	0	–
50+	7	4	7	0	2	0	–
Genetic counseling/testing discussions per year							–
1-5	2		2		2		–
6-10	3		1		1		–
11-20	8		2		1		–
21-49	4		1		1		–
50+	8		4		0		–
Personal experience of genetic counseling for another condition
Yes	13		1		0		2
No	12		9		5		4
Relative has experienced genetic counseling for another condition
Yes	15		1		2		2
No	10		9		3		4

HP: health professional.

Figure 1 Visual outline demonstrating the development of one of the consensus items.

Table 3 Approaches to practice items presented for review in round two, subsequent results and considerations.

Item short form	Item	Minimum level of consensus achieved* (%)	Further changes to consider after round 2^#
Approaches to practice Genetic counseling for all	Anyone with ALS/MND/FTD is offered the option of genetic counseling to discuss diagnostic genetic testing or DNA storage.	Total: 84.09 Genetic HPs: 83.33 HPs outside genetics: 80 Consumers: 90	Clarify that different types of health professionals can provide ‘genetic counseling’
Consistent health provider	Ideally, the health professional who meets the client to discuss diagnostic genetic testing should be the same person to deliver the results. If unavailable or another health professional is preferred, the health professional providing the results should ideally be aware of pretest discussions.	Total: 90.91 Genetic HPs: 87.5 HPs outside genetics: 100 Consumers: 90	Add in the statement ‘so long as they are equipped with adequate skills and knowledge for this discussion’
Information in several formats	Provide information in a variety of formats during the genetic counseling discussion. This includes a verbal discussion, a written summary and/or the use of visual aids, in response to the client's needs. NB: Visual aids include presentations, images or videos. At minimum, a written summary should be provided after genetic counseling and/or testing is completed, and may include providing a copy of the test results.	Total: 95.45 Genetic HPs: 100 HPs outside genetics: 80 Consumers: 100	Emphasise ‘in response to the client’s needs’
Support or information resources	Provide support or information resources throughout the genetic counseling and/or testing process in response to the client's needs. Contact details of the clinical team should always be provided. Additional support or information resources may include: Online information Details of support resources, including support groups Referrals to relevant organizations. NB: Resources are a source of further information and support after the genetic counseling discussion. Resources are expected to help clients at the time of testing and as required in the future.	Total: 97.73 Genetic HPs: 100 HPs outside genetics: 90 Consumers: 100	Clarify that contact details could be a generic rather than direct email or phone number (i.e., this is just a means to contact the team)
Flexible, family-centred approach	Provide a flexible, family-centered approach to diagnostic genetic testing by adapting the discussion to the client and family's needs (where possible). This may include: Adjustments to the type and amount of information, counseling and support provided Adjustments to the appointment format (e.g., providing genetic counseling at the same time as a regular clinical care appointment, or by telephone or telehealth) The involvement of a family member/carer or support person in the testing process, although this should not be mandatory.	Total: 100 Genetic HPs: 100 HPs outside genetics: 100 Consumers: 100	Update phrase to ‘family-centered approach to genetic counseling and diagnostic genetic testing’ More clearly state that a support person is recommended but not mandatory

HP: health professional; *: some items had different responses depending on the population group studied (e.g., likely familial and likely sporadic ALS/FTD). The minimum level of consensus achieved is provided in this table; ^#: further detail is available in supplementary table 2.

Table 4 Discussion and exploration items presented for review in round two, subsequent results and considerations.

Item short form	Item	Minimum level of consensus achieved* (%)	Further changes to consider after round 2^#
Provide information (and explore) Implications for person with ALS/MND/FTD	Provide information and explore the possible practical, clinical and emotional implications of genetic testing for the person with ALS/MND/FTD. This may include providing information and engaging in a conversation with the client about their thoughts and feelings related to: Confirming a diagnosis of ALS/MND/FTD (if not already diagnosed clinically) Being eligible for research studies or clinical trials if a pathogenic variant (mutation) is confirmed (where available) Any changes to management if a pathogenic variant is confirmed Emotional responses to confirming inherited disease and/or associated risks to other family members Emotional responses to a negative or uncertain result. This can support informed decision-making pretesting and inform the management of the person with ALS/MND/FTD during and after testing.	Total: 95.45 Genetic HPs: 95.8 HPs outside genetics: 100 Consumers: 90	Add more categories of possible implications (e.g., insurance, financial, psychosocial implications)
Implications for others	Provide information and explore the possible practical, clinical and emotional implications of genetic testing for others, including at-risk relatives and carers. This may include providing information and engaging in a conversation with the client about their thoughts and feelings related to: Genetic risks for relatives The option of predictive and reproductive genetic testing for at-risk relatives only if a pathogenic variant (mutation) is identified Emotional responses to genetic testing identifying inherited disease and/or associated risks Emotional responses to a negative or uncertain result. Where relevant to the needs of the client and the family, this can support informed decision-making pretesting and inform management during and after testing.	Total: 97.73 Genetic HPs: 95.83 HPs outside genetics: 100 Consumers: 100	Add a comma between at-risk relatives and carers to clarify carers aren’t always at risk
The condition being investigated	Before arranging genetic testing, provide information about the condition(s) being investigated. This should include: How the condition is inherited (e.g., autosomal dominant) How age of onset, severity and progression may vary between different family members. Depending on the client's knowledge of ALS/FTD, this may also include information about: Main clinical symptoms How the disease progresses. The above may need to be reviewed and reiterated after testing, depending on the client and family's needs and the genetic testing result.	Total: 93.18 Genetic HPs: 91.67 HPs outside genetics: 100 Consumers: 90	Add a comment that the level of information provided may differ depending on the client’s needs Clarify that the second dot point relates to uncertainties regarding disease clinical symptoms, progression and penetrance
The genetic testing available	Before testing, provide information about the genetic testing available. This includes: The process Possible results Timeframes Costs (where relevant) Limitations Possible uncertainties. After testing, the limitations and uncertainties of testing may need to be reiterated, depending on the client's needs and the genetic testing result.	Total: 100 Genetic HPs: 100 HPs outside genetics: 100 Consumers: 100	N/A
Use, privacy and storage of results	Before arranging genetic testing, provide information about, and gain consent for the use, privacy and storage of results now and in the future. This includes a discussion about whether results: Form part of the medical record Can be shared if the client passes away Can be shared with family members and/or health professionals to provide accurate genetic counseling to other family members. Consent should be clearly recorded. After results disclosure, the above can be confirmed and clarified with the client.	Total: 100 Genetic HPs: 100 HPs outside genetics: 100 Consumers: 100	N/A
Explore Access to support	Throughout the client's care, explore and assess their access to social, community and/or individual support, both within and outside the family.	Total: 95.45 Genetic HPs: 95.83 HPs outside genetics: 100 Consumers: 90	Add note that this may be facilitated separately to genetic counseling and testing discussions
Family communication	Explore and address family communication, including: Family dynamics Whether the client plans to communicate with other family members about the genetic testing and/or the results The possible risks and benefits of communicating to family members that a pathogenic variant (mutation) has been identified Offering support to help further family discussion. Depending on the client's needs, this may include a brief discussion before testing, and a more detailed discussion after testing, as informed by the genetic testing results.	Total: 95.45 Genetic HPs: 100 HPs outside genetics: 80 Consumers: 100	N/A
Patient and family history	Gather and interpret patient and family history to provide information about: The likelihood that a pathogenic variant (mutation) will be identified The likelihood of familial and sporadic disease Whether other genes or conditions should be evaluated How genetic test results should be interpreted.	Total: 100 Genetic HPs: 100 HPs outside genetics: 100 Consumers: 100	Change final dot point to ‘the meaning of the result in the context of the patient’s personal and family history’ Replace ‘sporadic’ with ‘apparently sporadic’ Add ‘NB: family history is not a perfect tool for risk assessment’
Ensure Informed/considered decision made	Ensure that an informed and considered decision has been made about genetic testing. This includes checking: The client understands all potential consequences, advantages and disadvantages of testing Misconceptions and expectations are identified and clarified The timing of testing, the client's psychosocial readiness and ability to cope has been considered Information is provided in a non-directive manner.	Total: 100 Genetic HPs: 100 HPs outside genetics: 100 Consumers: 100	Replace ‘non-directive’ with ‘unbiased’ and/or ‘assess’ with ‘ensure’
Genetic testing is voluntary	Before arranging genetic testing, and before results disclosure, provide information about the voluntary nature of having genetic testing. This may include: the right to opt-out at any time (even if testing is already underway) Alternative options (e.g., DNA banking or storage, deferring testing, having testing but not receiving the results, having testing but an elected person receives the result instead). NB: there are risks of inadvertent disclosure should the client elect to have testing but not receive results or elect for another person to receive results instead. This possibility should be discussed and clarified to ensure an informed decision is made.	Total: 100 Genetic HPs: 100 HPs outside genetics: 100 Consumers: 100	Remove ‘may’
Counseling and/or support provided	Provide client and family-centered counseling and/or psychological support throughout including the option of additional appointments (with the same, or a different health professional). The goal of this is to: Provide space to raise questions, doubts and concerns Express and explore their response to the information provided and result given (regardless of the result received) Facilitate adjustment and help integrate results into their daily life.	Total: 95.45 Genetic HPs: 95.83 HPs outside genetics: 100 Consumers: 90	N/A

N/A: not applicable; HP: health professional; *: some items had different responses depending on the population group studied (e.g., likely familial and likely sporadic ALS/FTD). The minimum level of consensus achieved is provided in this table; ^#: further detail is available in supplementary table 2.

Crook A, Jacobs C, Newton-John T, Richardson E, McEwen A. Patient and relative experiences and decision-making about genetic testing and counseling for familial ALS and FTD: a systematic scoping review. Alzheimer Dis Assoc Disord. 2021;35:374–85.

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Crook A, Jacobs C, Newton-John T, O’Shea R, McEwen A. Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review. J Neurol. 2022;269:676–92.

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