News from NORD

WASHINGTON – Early diagnosis and intervention for genetic diseases using the latest carrier screening can allow families to be prepared and informed prior to pregnancy, said Aishwarya Arjunan, MS, MPH, a clinical product specialist for carrier screening at Myriad Women’s Health, part of a diagnostic testing company based in Salt Lake City, Utah.

Piolinfax/Wikimedia Commons/GNU Free Documentation License

“Rare diseases are responsible for 35% of deaths in the first year of life,” she said in a panel discussion at the Rare Diseases and Orphan Products Breakthrough Summit sponsored by the National Organization for Rare Disorders.

Most patients with rare diseases go through a “diagnostic odyssey” lasting an average of 8 years before they receive an accurate diagnosis, she said. During this time, data suggest that they have likely been misdiagnosed three times and have seen more than 10 specialists, she added.

Barriers to genetic screening include limited access to genetics professionals, lack of patient and provider education about screening, issues of insurance coverage and reimbursement, coding challenges, and misperceptions about the perceived impact of screening, noted Jodie Vento, manager of the Center for Rare Disease Therapy at the Children’s Hospital of Pittsburgh.

The genetic carrier screening options, often referred to as panethnic expanded carrier screening, represents a change from previous screening protocols based on ethnicity, said Ms. Arjunan. However, guidelines for screening based on ethnicity “misses a significant percentage of pregnancies affected by serious conditions and widens the health disparity gap,” she said.

By contrast, expanded carrier screening allows for standardization of care that gives couples and families information to make decisions and preparations.

Current genetic testing strategies include single gene testing, in which a single gene of interest is tested; multigene panel testing, in which a subset of clinically important genes are tested; whole-exome sequencing, in which the DNA responsible for coding proteins is tested; and whole-genome sequencing, in which the entire human genome is tested for genetic disorders.

Improving access to genetic testing involves a combination of provider education, changes in payer policies, action by advocacy groups, and adjustment of societal guidelines, said Ms. Arjunan. However, the advantages of expanded carrier screening are many and include guiding patients to expert care early and setting up plans for long-term care and follow-up, she noted. In addition, early identification through screening can help patients reduce or eliminate the diagnostic odyssey and connect with advocacy and community groups for support, she concluded.

The presenters had no financial conflicts to disclose.

WASHINGTON – Early diagnosis and intervention for genetic diseases using the latest carrier screening can allow families to be prepared and informed prior to pregnancy, said Aishwarya Arjunan, MS, MPH, a clinical product specialist for carrier screening at Myriad Women’s Health, part of a diagnostic testing company based in Salt Lake City, Utah.

Piolinfax/Wikimedia Commons/GNU Free Documentation License

“Rare diseases are responsible for 35% of deaths in the first year of life,” she said in a panel discussion at the Rare Diseases and Orphan Products Breakthrough Summit sponsored by the National Organization for Rare Disorders.

Most patients with rare diseases go through a “diagnostic odyssey” lasting an average of 8 years before they receive an accurate diagnosis, she said. During this time, data suggest that they have likely been misdiagnosed three times and have seen more than 10 specialists, she added.

Barriers to genetic screening include limited access to genetics professionals, lack of patient and provider education about screening, issues of insurance coverage and reimbursement, coding challenges, and misperceptions about the perceived impact of screening, noted Jodie Vento, manager of the Center for Rare Disease Therapy at the Children’s Hospital of Pittsburgh.

The genetic carrier screening options, often referred to as panethnic expanded carrier screening, represents a change from previous screening protocols based on ethnicity, said Ms. Arjunan. However, guidelines for screening based on ethnicity “misses a significant percentage of pregnancies affected by serious conditions and widens the health disparity gap,” she said.

By contrast, expanded carrier screening allows for standardization of care that gives couples and families information to make decisions and preparations.

Current genetic testing strategies include single gene testing, in which a single gene of interest is tested; multigene panel testing, in which a subset of clinically important genes are tested; whole-exome sequencing, in which the DNA responsible for coding proteins is tested; and whole-genome sequencing, in which the entire human genome is tested for genetic disorders.

Improving access to genetic testing involves a combination of provider education, changes in payer policies, action by advocacy groups, and adjustment of societal guidelines, said Ms. Arjunan. However, the advantages of expanded carrier screening are many and include guiding patients to expert care early and setting up plans for long-term care and follow-up, she noted. In addition, early identification through screening can help patients reduce or eliminate the diagnostic odyssey and connect with advocacy and community groups for support, she concluded.

The presenters had no financial conflicts to disclose.

WASHINGTON – Early diagnosis and intervention for genetic diseases using the latest carrier screening can allow families to be prepared and informed prior to pregnancy, said Aishwarya Arjunan, MS, MPH, a clinical product specialist for carrier screening at Myriad Women’s Health, part of a diagnostic testing company based in Salt Lake City, Utah.

Piolinfax/Wikimedia Commons/GNU Free Documentation License

“Rare diseases are responsible for 35% of deaths in the first year of life,” she said in a panel discussion at the Rare Diseases and Orphan Products Breakthrough Summit sponsored by the National Organization for Rare Disorders.

Most patients with rare diseases go through a “diagnostic odyssey” lasting an average of 8 years before they receive an accurate diagnosis, she said. During this time, data suggest that they have likely been misdiagnosed three times and have seen more than 10 specialists, she added.

Barriers to genetic screening include limited access to genetics professionals, lack of patient and provider education about screening, issues of insurance coverage and reimbursement, coding challenges, and misperceptions about the perceived impact of screening, noted Jodie Vento, manager of the Center for Rare Disease Therapy at the Children’s Hospital of Pittsburgh.

The genetic carrier screening options, often referred to as panethnic expanded carrier screening, represents a change from previous screening protocols based on ethnicity, said Ms. Arjunan. However, guidelines for screening based on ethnicity “misses a significant percentage of pregnancies affected by serious conditions and widens the health disparity gap,” she said.

By contrast, expanded carrier screening allows for standardization of care that gives couples and families information to make decisions and preparations.

Current genetic testing strategies include single gene testing, in which a single gene of interest is tested; multigene panel testing, in which a subset of clinically important genes are tested; whole-exome sequencing, in which the DNA responsible for coding proteins is tested; and whole-genome sequencing, in which the entire human genome is tested for genetic disorders.

Improving access to genetic testing involves a combination of provider education, changes in payer policies, action by advocacy groups, and adjustment of societal guidelines, said Ms. Arjunan. However, the advantages of expanded carrier screening are many and include guiding patients to expert care early and setting up plans for long-term care and follow-up, she noted. In addition, early identification through screening can help patients reduce or eliminate the diagnostic odyssey and connect with advocacy and community groups for support, she concluded.

The presenters had no financial conflicts to disclose.

WASHINGTON – Ataxia is the most common symptom at disease onset in patients with opsoclonus-myoclonus syndrome (OMS), a rare disease affecting only 1 in 5,000,000 individuals, mostly aged 1-5 years, based on data from a new patient registry.

In partnership with the National Organization of Rare Disorders (NORD) the nonprofit OMSLife Foundation has created a patient registry to better understand the disease experience in patients, wrote Mike Michaelis, chairman of OMSLife, and his colleagues. Early data from 275 enrolled patients were presented in a poster at the NORD Rare Summit, held by the National Organization for Rare Disorders.

The registry patients were mainly born in the United States (86%) and white (74%); approximately half were female. Of 150 patients who indicated symptoms at onset, 87% reported ataxia. Additional symptoms at onset were myoclonus (61%), opsoclonus (59%), tremors (46%), sleep disturbances (45%), temper tantrums (38%), vomiting (27%), fever (13%), headache (9%) and other symptoms (13%).

The researchers reviewed associations of symptoms at onset to determine the frequency of other symptoms for each individual symptom. Ataxia was present with 89% or higher instances of the other reported symptoms. Of note, some symptoms occurred more frequently than expected, such as temper tantrums and tremors in approximately 70% of patients with sleep disturbances. Myoclonus and opsoclonus, as well as fever and vomiting, also were significantly associated with the presence of other symptoms.

Two-thirds of the registry patients (69%) were diagnosed within 3 months of symptom onset, and 83% of these were diagnosed by a neurologist. Based on the Mitchell-Pike OMS severity scale, 59% of the patients met criteria for severe disease, 34% were classified as moderate, and 7% were mild. The registry is ongoing, but the current data provide insight on the clinical picture and common symptoms of OMS, the researchers said.

OMS Life was established in 2012 to support patients, caregivers, and researchers in raising awareness of opsoclonus-myoclonus syndrome as well as funds for research.

The study was supported by the OMSLife Foundation, NORD, and Trio Health Analytics. The researchers are employed by these organizations.

WASHINGTON – Ataxia is the most common symptom at disease onset in patients with opsoclonus-myoclonus syndrome (OMS), a rare disease affecting only 1 in 5,000,000 individuals, mostly aged 1-5 years, based on data from a new patient registry.

In partnership with the National Organization of Rare Disorders (NORD) the nonprofit OMSLife Foundation has created a patient registry to better understand the disease experience in patients, wrote Mike Michaelis, chairman of OMSLife, and his colleagues. Early data from 275 enrolled patients were presented in a poster at the NORD Rare Summit, held by the National Organization for Rare Disorders.

The registry patients were mainly born in the United States (86%) and white (74%); approximately half were female. Of 150 patients who indicated symptoms at onset, 87% reported ataxia. Additional symptoms at onset were myoclonus (61%), opsoclonus (59%), tremors (46%), sleep disturbances (45%), temper tantrums (38%), vomiting (27%), fever (13%), headache (9%) and other symptoms (13%).

The researchers reviewed associations of symptoms at onset to determine the frequency of other symptoms for each individual symptom. Ataxia was present with 89% or higher instances of the other reported symptoms. Of note, some symptoms occurred more frequently than expected, such as temper tantrums and tremors in approximately 70% of patients with sleep disturbances. Myoclonus and opsoclonus, as well as fever and vomiting, also were significantly associated with the presence of other symptoms.

Two-thirds of the registry patients (69%) were diagnosed within 3 months of symptom onset, and 83% of these were diagnosed by a neurologist. Based on the Mitchell-Pike OMS severity scale, 59% of the patients met criteria for severe disease, 34% were classified as moderate, and 7% were mild. The registry is ongoing, but the current data provide insight on the clinical picture and common symptoms of OMS, the researchers said.

OMS Life was established in 2012 to support patients, caregivers, and researchers in raising awareness of opsoclonus-myoclonus syndrome as well as funds for research.

The study was supported by the OMSLife Foundation, NORD, and Trio Health Analytics. The researchers are employed by these organizations.

WASHINGTON – Ataxia is the most common symptom at disease onset in patients with opsoclonus-myoclonus syndrome (OMS), a rare disease affecting only 1 in 5,000,000 individuals, mostly aged 1-5 years, based on data from a new patient registry.

In partnership with the National Organization of Rare Disorders (NORD) the nonprofit OMSLife Foundation has created a patient registry to better understand the disease experience in patients, wrote Mike Michaelis, chairman of OMSLife, and his colleagues. Early data from 275 enrolled patients were presented in a poster at the NORD Rare Summit, held by the National Organization for Rare Disorders.

The registry patients were mainly born in the United States (86%) and white (74%); approximately half were female. Of 150 patients who indicated symptoms at onset, 87% reported ataxia. Additional symptoms at onset were myoclonus (61%), opsoclonus (59%), tremors (46%), sleep disturbances (45%), temper tantrums (38%), vomiting (27%), fever (13%), headache (9%) and other symptoms (13%).

The researchers reviewed associations of symptoms at onset to determine the frequency of other symptoms for each individual symptom. Ataxia was present with 89% or higher instances of the other reported symptoms. Of note, some symptoms occurred more frequently than expected, such as temper tantrums and tremors in approximately 70% of patients with sleep disturbances. Myoclonus and opsoclonus, as well as fever and vomiting, also were significantly associated with the presence of other symptoms.

Two-thirds of the registry patients (69%) were diagnosed within 3 months of symptom onset, and 83% of these were diagnosed by a neurologist. Based on the Mitchell-Pike OMS severity scale, 59% of the patients met criteria for severe disease, 34% were classified as moderate, and 7% were mild. The registry is ongoing, but the current data provide insight on the clinical picture and common symptoms of OMS, the researchers said.

OMS Life was established in 2012 to support patients, caregivers, and researchers in raising awareness of opsoclonus-myoclonus syndrome as well as funds for research.

The study was supported by the OMSLife Foundation, NORD, and Trio Health Analytics. The researchers are employed by these organizations.