Abstract
Remarkable advances in our understanding of the genetic contributions to amyotrophic lateral sclerosis (ALS) have sparked discussion and debate about whether clinical genetic testing should routinely be offered to patients with ALS. A related, but distinct, question is whether presymptomatic genetic testing should be offered to family members who may be at risk for developing ALS. Existing guidelines for presymptomatic counseling and testing are mostly based on small number of individuals, clinical judgment, and experience from other neurodegenerative disorders. Over the course of the last 8 years, we have provided testing and 317 genetic counseling sessions (including predecision, pretest, posttest, and ad hoc counseling) to 161 first-degree family members participating in the Pre-Symptomatic Familial ALS Study (Pre-fALS), as well as testing and 75 posttest counseling sessions to 63 individuals with familial ALS. Based on this experience, and the real-world challenges we have had to overcome in the process, we recommend an updated set of guidelines for providing presymptomatic genetic counseling and testing to people at high genetic risk for developing ALS. These recommendations are especially timely and relevant given the growing interest in studying presymptomatic ALS.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 2295-2302 |
| Number of pages | 8 |
| Journal | Neurology |
| Volume | 86 |
| Issue number | 24 |
| DOIs | |
| State | Published - Jun 14 2016 |
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ASJC Scopus subject areas
- Clinical Neurology
Cite this
Presymptomatic ALS genetic counseling and testing. / Benatar, Michael G; Stanislaw, Christine; Reyes, Eliana; Hussain, Sumaira; Cooley, Anne; Fernandez, Maria Catalina; Dauphin, Danielle D.; Michon, Sara Claude; Andersen, Peter M.; Wuu, Joanne.
In: Neurology, Vol. 86, No. 24, 14.06.2016, p. 2295-2302.Research output: Contribution to journal › Review article
}
TY - JOUR
T1 - Presymptomatic ALS genetic counseling and testing
AU - Benatar, Michael G
AU - Stanislaw, Christine
AU - Reyes, Eliana
AU - Hussain, Sumaira
AU - Cooley, Anne
AU - Fernandez, Maria Catalina
AU - Dauphin, Danielle D.
AU - Michon, Sara Claude
AU - Andersen, Peter M.
AU - Wuu, Joanne
PY - 2016/6/14
Y1 - 2016/6/14
N2 - Remarkable advances in our understanding of the genetic contributions to amyotrophic lateral sclerosis (ALS) have sparked discussion and debate about whether clinical genetic testing should routinely be offered to patients with ALS. A related, but distinct, question is whether presymptomatic genetic testing should be offered to family members who may be at risk for developing ALS. Existing guidelines for presymptomatic counseling and testing are mostly based on small number of individuals, clinical judgment, and experience from other neurodegenerative disorders. Over the course of the last 8 years, we have provided testing and 317 genetic counseling sessions (including predecision, pretest, posttest, and ad hoc counseling) to 161 first-degree family members participating in the Pre-Symptomatic Familial ALS Study (Pre-fALS), as well as testing and 75 posttest counseling sessions to 63 individuals with familial ALS. Based on this experience, and the real-world challenges we have had to overcome in the process, we recommend an updated set of guidelines for providing presymptomatic genetic counseling and testing to people at high genetic risk for developing ALS. These recommendations are especially timely and relevant given the growing interest in studying presymptomatic ALS.
AB - Remarkable advances in our understanding of the genetic contributions to amyotrophic lateral sclerosis (ALS) have sparked discussion and debate about whether clinical genetic testing should routinely be offered to patients with ALS. A related, but distinct, question is whether presymptomatic genetic testing should be offered to family members who may be at risk for developing ALS. Existing guidelines for presymptomatic counseling and testing are mostly based on small number of individuals, clinical judgment, and experience from other neurodegenerative disorders. Over the course of the last 8 years, we have provided testing and 317 genetic counseling sessions (including predecision, pretest, posttest, and ad hoc counseling) to 161 first-degree family members participating in the Pre-Symptomatic Familial ALS Study (Pre-fALS), as well as testing and 75 posttest counseling sessions to 63 individuals with familial ALS. Based on this experience, and the real-world challenges we have had to overcome in the process, we recommend an updated set of guidelines for providing presymptomatic genetic counseling and testing to people at high genetic risk for developing ALS. These recommendations are especially timely and relevant given the growing interest in studying presymptomatic ALS.
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UR - http://www.scopus.com/inward/citedby.url?scp=84974661188&partnerID=8YFLogxK
U2 - 10.1212/WNL.0000000000002773
DO - 10.1212/WNL.0000000000002773
M3 - Review article
C2 - 27194384
AN - SCOPUS:84974661188
VL - 86
SP - 2295
EP - 2302
JO - Neurology
JF - Neurology
SN - 0028-3878
IS - 24
ER -