Table 3. Concerns about the use of WGS in clinical practice by Profile.
| Profile Aa | Profile Bb |
|---|---|
| Factor 1: Patients and proxies | Factor 1: Potential adverse effects for patients and proxies, and medical professionals |
| 1. Inform patient’s relatives about their own genetic risks | 1. Patients’/proxies’ difficulties in understanding the results |
| 2. Patients’/proxies’ difficulties in understanding the results | 2. Issues raised by the management of unexpected findings |
| 3. Need for further genetic testing of family members for appropriate interpretation of results | 3. Risk of discrimination or stigmatization of patients or their family members |
| 4. Need to re-contact patients to inform them about newly discovered mutations linked to their neurological condition | 4. Inform patient’s relatives about their genetic risks |
| 5. Need to re-contact patients to inform them about newly discovered mutations linked to their neurological condition | |
| Factor 2: Lack of resources | Factor 2: Lack of resources |
| 1. Lack of access to/availability of the test | 1. Potential for causing emotional harm to patients or proxies |
| 2. Cost/lack of insurance coverage and reimbursement | 2. Lack of time and resources to educate/inform patients/proxies about the test and its results |
| 3. Lack of specific clinical guidelines to use WGS in practice | 3. Lack of specific clinical guidelines to use WGS in practice |
| 4. Obligations to follow overly constrictive professional guidelines that could limit choices in practice | 4. Obligations to follow overly constrictive professional guidelines that could limit choices in the practice |
| 5. Lack of time and resources (eg, genetic counselling) to educate/inform patients/proxies about the test and its results | 5. Lack of access to/availability of the test |
| 6. Costs/lack of insurance coverage and reimbursement | |
| Factor 3: Potential adverse effects for patients and medical professionals | |
| 1. Professional liability for adverse outcomes that might occur as a result of returning (or not) the test findings | |
| 2. Risk of discrimination or stigmatization of patients or their family members | |
| 3. Potential for causing emotional harm to patients or proxies (anxiety, guilt, etc.) |
Concerns about WGS were characterized by a three factors explaining 74.90% of the total variance: concerns for patients’ proxies (28.11%), lack of resources (26.80%) and potential for adverse effects (19.99%)
.
Concerns about WGS were characterized by two factors – explaining 83.32% of the total variance – including potential adverse effects (53.64%), and lack of resources (29.68%).