Clinical genome sequencing

Is more information always good within the context of clinical genome sequencing?

 Clinical genome sequencing

            Clinical genome sequencing is a generic term that determines the sequence of clinical genes, related interpretation, bio informatics analysis and the correlation between clinical genotype and phenotype. The process is undertaken by certified laboratories in addressing their clinical question. More information is beneficial in clinical genome sequencing only with consent of those taking the test and ones being tested. The process assists to identify the molecular causes’ of patient’s disease (Marshal, Sharp &  Goldenberg, 2016).

Factors such as family history with similar affected individuals, inheritance patterns and consanguinity, Phenotype factors such as severity of phenotype and specific nature of clinical presentation such as metabolic diseases or neuropathy, Clinical interpretation such as those demanding detailed physical examination and imaging and exclusion of acquired infections and normal chromosomal microarray analysis and laboratory tests require genome sequencing.

What rights and limits should consumers and patients have to personal genetic test results?

Genome-wide sequencing is limited to incomplete coverage that results in false negatives. Second, inability to assess various disease mechanisms in repetitive elements such as trinucleotide repeat expansions, structural variants especially with WES and other target capture methods in clinical practice limit the process. Lastly, challenges with duration of databases in presumed pathogenic mutations (Marshal, Sharp & Goldenberg, 2016).

Consumers and patients have a right to their test results. These include a right to receive incidental findings not related to primary tests ordered. Adult patients still competent should receive prior information on incidental findings that may occur and specific tests considered.

In addition, they require education on what type of incidental findings will not be returned to them and what findings they may return to the laboratory. Adults have a right for their tests results to be done and released by accredited laboratories and for their results to have detailed information of methodology used and analysis approach taken. There should be a list of examined genes in case of listed subset of genes. It is the right of consumers and patients to have an interpretation of the results from a certified clinician. In addition, patients have a right to have their results interpretated using current peer-reviewed literature and varied databases considering various limitations (Marshal, Sharp & Goldenberg, 2016).

Consumers should have a right to engage in social networking through their websites in case their results are stored in databases. Moreover, they should be informed on further tests performed over their results. They have a right for their data to be stored privately to avoid bleaches. In addition, passwords should be placed to avoid sharing results with other members.

Should parents have access to their children’s full genomes? 

Parents should have access to their children’s full genomes especially those revealing potential risks for penetrated condition, which require medical action during childhood. However, results should never be communicated to parents if they demonstrate a risk for adult-onset genetic condition unless the parents request to be disclosed and if it will prevent serious damage to parent is health or a family member.


Hello Gary, I agree that full information is important to both the doctor and patient and consumers, but owners of information should have consent on whether their tests should be accessed by the public. Example the one on blood tests should have passwords to ensure it is private unless the patient permitted the doctors to make it public. However, the owner should receive compensation on her publicly viewed medical information. In addition, children genome information viewed to the parents is important since parents take adequate measures that would prevent further harmful effects on the child and the family.

Hello, Faisal I agree with your ideas that additional information offers doctors details of your current medical condition, which is also availed, to patients on their consent. The storage should be private and only accessed by authorized medical personnel. Children’s genome information assists parents to take earlier medical steps and avoid adverse effects in the future.









Marshal, P., Sharp, R., & Goldenberg, A. (2016). Genes and genetic modification: overview of technology and ethical issues. HSCI2105.The George Washington university.





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