Is genetic testing of value for ALS patients?

Last Updated on

January 19, 2018 – Patients suffering from amyotrophic lateral sclerosis (ALS) find value in genetic testing for the disease, whether or not they have a family history of the condition, according to findings from a survey conducted by U.S. researchers, just published in the November 2017 issue of Molecular Genetics & Genomic Medicine.

ALS, also known as Lou Gehrig’s disease, is a specific disease which causes the death of neurons controlling voluntary muscles. ALS is characterized by stiff muscles, muscle twitching, and gradually worsening weakness due to muscles decreasing in size. This results in difficulty speaking, swallowing, and eventually breathing.

The investigators surveyed 449 ALS patients (45 with familial ALS and 404 with sporadic ALS). In all, 156 survey respondents (34.7%) reported that they had been offered genetic testing for ALS and 105 that they had completed it. Of 75 patients who recalled the result, 21 (28%) said the result was a positive disease finding.

Genetic testing had been offered to more than two-thirds of the patients with familial ALS and to less than one-third of the patients with sporadic ALS. Most survey respondents reported good experiences with the genetic testing process, with at least 70% agreeing with most survey statements that described the experience in favorable terms. The survey statements that fell below that threshold were those about whether a doctor/care team had explained what the results mean (59%) and whether the test results were useful to family members (62.5%). Respondents who tested positive for an ALS mutation did not have significantly less favorable responses about their testing experiences, compared to those who tested negative. The authors interpret this finding to mean that getting bad news did not negatively impact (the) perception of the testing process.

For that, it is important to know about the  genetic background of ALS as it is known today.  About 5–10% of cases are directly inherited from a person’s parents. Overall, first-degree relatives of an individual with ALS have a 1% risk of developing ALS. A defect on chromosome 21, which codes for superoxide dismutase, is associated with about 20% of familial cases of ALS, or about 2% of ALS cases overall. This mutation is believed to be transmitted in an autosomal dominant manner, and has over a hundred different forms of mutation. The most common ALS-causing mutation is a mutant SOD1 gene, seen in North America; this is characterized by an exceptionally rapid progression from onset to death. The most common mutation found in Scandinavian countries, D90A-SOD1, is more slowly progressive than typical ALS, and people with this form of the disorder survive for an average of 11 years. In 2011, a genetic abnormality known as a hexanucleotide repeat was found in a region called C9orf72, which is associated with ALS combined with frontotemporal dementia ALS-FTD, and accounts for some 6% of cases of ALS among white Europeans.

Many patients with ALS have questions about why they developed the condition. ALS genetic testing can help patients understand whether their condition is caused by a known ALS gene. If a harmful change is found in one of these genes, the patient has a genetic form of ALS and could become a candidate for gene-specific clinical trials or other studies. A genetic counselor could then also provide specific information about the chance that children and other family members might carry the same gene.

Also, some specific genetic forms of ALS may be associated with a faster or slower progression of symptoms. In these cases, the genetic testing can help to predict the progression of symptoms, which is another piece of information that patients are interested in. Because there is currently no specific treatment for genetic forms of ALS (outside clinical trials), it is certainly not the case that patients would not be interested in genetic testing. Quite the contrary might apply, and the apomediary and educated patient of today would like to know about every single aspect of his/her disease.

Given the relatively less favorable responses to survey items about doctors’ explanations of results and the results’ value to family members, as it emerged from the study, the authors suggest that patients could benefit from more extensive discussion of the complex issues surrounding transmission, penetrance, and testing of family members. They conclude that their findings support the practice of offering testing to all ALS patients.

Print Friendly, PDF & Email

Tags: , , , , , , , , , ,
About the Author
Joseph Gut - thasso Ph.D.; Professor in Pharmacology and Toxicology. Senior expert in theragenomic and personalized medicine and individualized drug safety. Senior expert in pharmaco- and toxicogenetics. Senior expert in human safety of drugs, chemicals, environmental pollutants, and dietary ingredients.

Your opinion

Comment

@peepso_user_32082(catherine) Am so happy my Daughter got cured of ALS which almost make her disable and taken her life, please help me in thanking this clinic for their good work by healing ALS patient, they are so great and useful to the state, they are not here to cheat on sick people but ready to help the sick, my Daughter get herself back to feet after 4 Months of medication, here is their email healthmedlab@gmail.com if you need their help. You can view my profile and petition http://chng.it/Sdwfk7pr
2 months ago 2 months ago
@peepso_user_32213(wendycathy) A very good friend of mine has been diagnosed with ALS, 7 months ago started with muscle weakness, stiffness and slurred speech and she used to help people with holistic methods (including me) i am proud to say my friend is now ALS free, and her life has been restored to normal. My hopes and prayers are that, you can also contact the Doctor David for possible cure if you have ALS or any relative suffering for same disease here is their email medicalhealthcarelab@gmail.com
2 months ago 2 months ago

thasso: conditions

thasso: newest tweets

thasso: recent comments

View my Flipboard Magazine.

thasso: categories

thasso: archives

thasso: simple chat

You must be a registered user to participate in this chat.

  • Artificial RNA editing with ADAR for gene therapy July 9, 2020
    Many of the diseases caused by point mutations have no established therapeutic approaches. Prof. Tsukahara and colleagues (Japan Advanced Institute of Science and Technology) are studying a therapeutic method using artificial RNA editing. Artificial site-directed RNA editing is an important technique for modifying genes and ultimately regulating protein function. We are trying to modify the […]
  • Amygdala changes in male patients with schizophrenia and bipolar disorder July 9, 2020
    Researchers at Kumamoto University, Japan have revealed that DNA methylation occurs in the gene that codes serotonin transporter (SERT), a protein that regulates neurotransmitter transmission, in schizophrenia and bipolar patients. Particularly prominent in males and patients with certain genetic polymorphisms, this methylation is inversely correlated with volume of the amygdala in the brain. This work […]
  • Surprisingly many peculiar long introns found in brain genes July 9, 2020
    In a recent study of genes involved in brain functioning, their previously unknown features have been uncovered by bioinformaticians from the Moscow Institute of Physics and Technology and the Institute of Mathematical Problems of Biology, RAS. The findings are reported in PLOS One.
  • Major cause of rare genetic mitochondrial disease identified July 9, 2020
    A cutting-edge study from the Murdoch Children's Research Institute (MCRI) has given hope to families of children born with a fatal heart muscle disease caused by faulty cell machinery.
  • Spatial mapping method pinpoints potential new therapeutic targets in lupus July 8, 2020
    A team of researchers from Children's Hospital of Philadelphia (CHOP) used a new method of pinpointing potential disease-causing changes in the genome to identify two new potential therapeutic targets for lupus, while also paving the way for more accurately identifying disease-causing variations in other autoimmune disorders. The findings were published online in Nature Communications.
  • Lung screening bus brings high-tech health care directly to patients July 14, 2020
    A mobile platform for lung cancer screening with low-dose computed tomography (CT) can be developed with limited financial risk and take powerful screening tests directly to patients, including underserved rural areas where rates of new lung cancer cases tend to be higher.
  • Mismatched caregiver-infant interactions during feeding could boost babies' risk of later obesity July 14, 2020
    A new integrative review examined evidence related to infants' self-regulation of behavior and emotion, and how that relates to interactions when they are fed by their caregivers, including how those interactions may derail infants' ability to regulate their intake of food. The review found that infants who are fed in the absence of hunger or […]
  • When a pandemic strikes, we still expect an ambulance July 14, 2020
    Edith Cowan University (ECU) PhD candidate and paramedic Cameron Anderson investigated community attitudes regarding the professional obligation of paramedics to respond during pandemics.The research showed that, pandemic or not, Australians expected an ambulance to arrive if children were involved, if there was adequate protective equipment and if it involved our immediate families.
  • Age of sexual debut among young gay-identified sexual minority men July 14, 2020
    Young gay sexual minority men - especially Black and Latino youth - have their first sexual experiences at younger ages, emphasizing a need for comprehensive and inclusive sex education, according to Rutgers researchers.
  • COVID-19 pandemic could be learning opportunity for middle-grade students July 14, 2020
    Educators could use the COVID-19 outbreak to help middle-schoolers better understand the world, according to new research from faculty at Binghamton University, State University of New York.
Top