A study published in Genetics in Medicine highlights the potential of genomics-informed care in addressing the complex needs of patients with neurodevelopmental disorders (NDDs). Conducted at the University of California, Los Angeles (UCLA) Care and Research in Neurogenetics (CARING) Clinic, this research offers insights into the role of genetic testing and multidisciplinary care in refining diagnoses and treatment strategies for patients with conditions like autism spectrum disorder (ASD) and intellectual disability (ID).
The CARING Clinic Model
The CARING Clinic is a genomics-informed, multidisciplinary specialty center offering integrated care in neurology, psychiatry, medical genetics, and psychology. Over a five-year period, the clinic evaluated 316 patients with suspected or confirmed neurogenetic conditions. Patients underwent thorough evaluations, including genetic testing and detailed clinical assessments. The approach is intended to streamline care and reduce the lengthy diagnostic and treatment delays often experienced by families navigating traditional healthcare systems.
Genetic Testing Findings
Genetic testing was performed on 246 patients, with results revealing pathogenic or likely pathogenic variants in 41.8% of cases. These findings included 62 distinct genetic diagnoses, ranging from relatively common conditions like 22q11.2 deletion syndrome to ultrarare disorders seen in single patients. Exome sequencing emerged as a key diagnostic tool, significantly increasing the likelihood of identifying actionable genetic variants.
The availability of genetic diagnoses directly influenced clinical management, with documented changes including:
Clinical Impact
The integration of genomic data into care plans led to substantial benefits for patients. For instance, genetic diagnoses prompted enhanced medical surveillance for condition-associated risks, such as seizures in patients with Dup15q syndrome. Additionally, genomic findings informed decisions about psychoactive medications and facilitated connections to targeted therapies or clinical trials.
While genetic testing was pivotal in many cases, the clinic also addressed broader barriers to care, including disparities in access to services. For example, socioeconomic factors did not significantly influence access to exome sequencing within this cohort, suggesting that the clinic’s centralized model helped mitigate some inequities.
Challenges and Opportunities
Despite its success, the CARING Clinic faced several challenges. Many patients encountered barriers to timely genetic testing, including insurance denials and the high cost of advanced sequencing technologies. Additionally, the clinic’s reliance on a limited number of specialists posed constraints on patient capacity, highlighting the need for scalable care models.
The study’s authors emphasize the importance of training healthcare providers in core principles of genomic medicine, rather than focusing solely on well-characterized syndromes. With the rapid expansion of gene-based therapies, equipping clinicians with the skills to interpret and act on genetic findings will be crucial.
Publication Details
Besterman AD, Adams DJ, Wong NR, et al. Genomics-informed neuropsychiatric care for neurodevelopmental disorders: results from a multidisciplinary clinic. Genet Med. 2024;doi:10.1016/j.gim.2024.101333.
The CARING Clinic Model
The CARING Clinic is a genomics-informed, multidisciplinary specialty center offering integrated care in neurology, psychiatry, medical genetics, and psychology. Over a five-year period, the clinic evaluated 316 patients with suspected or confirmed neurogenetic conditions. Patients underwent thorough evaluations, including genetic testing and detailed clinical assessments. The approach is intended to streamline care and reduce the lengthy diagnostic and treatment delays often experienced by families navigating traditional healthcare systems.
Genetic Testing Findings
Genetic testing was performed on 246 patients, with results revealing pathogenic or likely pathogenic variants in 41.8% of cases. These findings included 62 distinct genetic diagnoses, ranging from relatively common conditions like 22q11.2 deletion syndrome to ultrarare disorders seen in single patients. Exome sequencing emerged as a key diagnostic tool, significantly increasing the likelihood of identifying actionable genetic variants.
The availability of genetic diagnoses directly influenced clinical management, with documented changes including:
- Cascade genetic testing for family members (30.6%)
- Adjustments to medication regimens (13.9%)
- New referrals to medical specialists (69.4%)
- Enrollment in clinical trials (2.8%)
Clinical Impact
The integration of genomic data into care plans led to substantial benefits for patients. For instance, genetic diagnoses prompted enhanced medical surveillance for condition-associated risks, such as seizures in patients with Dup15q syndrome. Additionally, genomic findings informed decisions about psychoactive medications and facilitated connections to targeted therapies or clinical trials.
While genetic testing was pivotal in many cases, the clinic also addressed broader barriers to care, including disparities in access to services. For example, socioeconomic factors did not significantly influence access to exome sequencing within this cohort, suggesting that the clinic’s centralized model helped mitigate some inequities.
Challenges and Opportunities
Despite its success, the CARING Clinic faced several challenges. Many patients encountered barriers to timely genetic testing, including insurance denials and the high cost of advanced sequencing technologies. Additionally, the clinic’s reliance on a limited number of specialists posed constraints on patient capacity, highlighting the need for scalable care models.
The study’s authors emphasize the importance of training healthcare providers in core principles of genomic medicine, rather than focusing solely on well-characterized syndromes. With the rapid expansion of gene-based therapies, equipping clinicians with the skills to interpret and act on genetic findings will be crucial.
Publication Details
Besterman AD, Adams DJ, Wong NR, et al. Genomics-informed neuropsychiatric care for neurodevelopmental disorders: results from a multidisciplinary clinic. Genet Med. 2024;doi:10.1016/j.gim.2024.101333.