Thorough clinical evaluation with whole genome sequencing enables diagnosis of unexplained abnormalities in adults

Successful genetic evaluation reduces misdiagnosis and supports early interventions to prevent premature mortality in adults

Whole genome sequencing of adults suspected of inherited diseases can provide rapid diagnosis when gold standard tests cannot yield a definitive result.

— Dr. Stephen Lam

SAN FRANCISCO, CALIFORNIA, USA, March 6, 2022 / — Age-related chronic diseases account for the majority of adult premature mortality. Cancers and cardiovascular disorders account for more than half of the causes of premature death in men and women aged 50 to 75, with diabetes, respiratory, neurological and liver diseases accounting for the majority of the remaining deaths.

Most chronic diseases in adults are asymptomatic at first and are often reported as unexplained abnormalities by routine medical examination. Although environmental factors and lifestyles influence the onset of these diseases, many of these disorders have genetic causes. Unexplained abnormalities in adults caused by genetic disorders are difficult to diagnose using standard care procedures because their symptoms often overlap with other common disorders, and some people who carry the disease-causing mutations develop the disease while others do not.

Monogenic and polygenic evaluation for patients with unexplained symptoms

The genetic risk of developing these chronic diseases or unexplained troubles can be monogenic (caused by a mutation in a single gene) or polygenic (conferred by variations of several genes). Whole genome sequencing combined with a full clinical evaluation can provide relatively high diagnostic success in determining these causes of monogenic and polygenic diseases.

The approach can be helpful in diagnosing unexplained but persistent symptoms such as pain, headache, heart palpitations, repeated infections, paralysis, numbness and tingling, etc. When test results for these symptoms are all normal, genetic testing may be warranted.

Deep clinical phenotyping

To diagnose and treat a wide range of unexplained diseases, the first step is “deep phenotyping”. Full clinical evaluation of unexplained impairments, organ-specific abnormalities, and family history as well as laboratory testing are performed by physicians specializing in genomic medicine prior to genetic testing. The systematic collection of these clinical symptoms (phenotypes) greatly affects the likelihood of successful genomic analysis leading to confirmation of genetic causes.

Whole genome sequencing test

Using whole genome sequencing, the entire human genome is analyzed, covering over five million single gene mutations and polygenic variants, associated with 6,000 single gene disorders and multiple common diseases. Coupled with deep phenotyping, the test considerably improves the diagnosis of disabling disorders in adults.

“Genetic disorders contribute to a significant proportion of adult morbidity and mortality. Diagnosis of genetic diseases in adults is challenging because these disorders have variable clinical features that overlap with common disease comorbidities and are often overlooked by differential diagnosis. Many patients have undergone extensive testing and remain undiagnosed or misdiagnosed and without proper treatment,” said Dr Stephen Lam, director of clinical genetics at Hong Kong Sanatorium & Hospital. “Whole genome sequencing of adults suspected of inherited diseases can provide rapid diagnosis when gold standard tests cannot yield a definitive result.”

“We are excited to provide whole genome sequencing with simultaneous monogenic, polygenic and pharmacogenomic analysis to improve clinical outcomes. Says Daniel Siu, CEO of Rainbow Genomics, “By working with ‘super specialists’ to perform in-depth phenotyping, we are able to provide genome-wide analysis that leads to the diagnosis of unexplained abnormalities. And many of these genetic discoveries are medically actionable.

About the Rainbow Whole Genome Sequencing Test

The test provides five clinical reports:

1. Personal Health Assessment

• Cancer
• Cardiovascular disorders
• Abnormality of the endocrine system, including diabetes and fatty liver disease
• Sleep disorders
• Hearing and eye disorders
• Skeletal and bone disorders
• Immune system disorders
• Skin abnormality
• Auto-inflammatory disorders
• Behavioral abnormality
• Neurological disorders, including dementia and Alzheimer’s disease

2. Reproductive health assessment

• Male infertility
• Female infertility

3. Whole genome carrier status

• Carrier screening testing recommended by the American College of Obstetricians and Gynecologists and the American College of Medical Genetics

• Whole genome carrier analysis: mutations in 2,500 genes associated with recessive disorders that can be transmitted to the patient’s children

4. Common disease risk assessment

• Common complex diseases such as diabetes, heart attacks and strokes are mainly caused by changes in several genetic variants (polygenic risks). However, these variants are highly ethnic specific. Polygenic risk assessment for specific ethnic groups such as Asians is difficult because very few publications using Asian patients and healthy controls with statistical significance are available.

• Polygenic variants selected by Rainbow Genomics experts are highly ethnically specific and are supported by large-scale genome-wide association and replication studies using tens of thousands of patients and controls collectively drawn from Asia, USA and European countries.

5. Pharmacogenomic evaluation of 185 drugs to improve clinical outcomes

• For chronic disorders, it is essential to achieve risk reduction goals by improving adherence. Pharmacogenomic evaluation allows for high therapeutic efficacy through minimization of drug side effects, resulting in better therapeutic outcomes.

About Rainbow Genomics

Rainbow Genomics is committed to providing clinically validated genomic testing to Asian, Caucasian, mixed race and local minority populations. The company offers high diagnostic success to physicians, enabling rapid treatment of patients.

All Rainbow Genomics tests are performed in CLIA-certified, CAP-accredited, high-complexity clinical laboratories. Patient privacy is protected by Rainbow’s HIPAA-compliant clinical testing process.

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