clinical molecular geneticist Interview Questions and Answers

1. What are the ethical considerations involved in genetic testing?

   • Answer: Ethical considerations include informed consent, patient autonomy, privacy and confidentiality of genetic information, potential for discrimination (genetic discrimination in employment or insurance), and the psychological impact of test results on individuals and families. Pre- and post-test counseling are crucial to address these issues.

2. Explain the difference between germline and somatic mutations.

   • Answer: Germline mutations are present in reproductive cells (sperm and eggs) and are passed from parent to offspring, affecting every cell in the body of the offspring. Somatic mutations occur in non-reproductive cells and are not inherited; they can contribute to cancer development but are not passed to the next generation.

3. Describe the process of polymerase chain reaction (PCR).

   • Answer: PCR is a technique used to amplify a specific DNA sequence. It involves repeated cycles of denaturation (separating DNA strands), annealing (primers binding to the target sequence), and extension (DNA polymerase synthesizing new strands). This exponential amplification allows for detection and analysis of even small amounts of DNA.

4. What is next-generation sequencing (NGS) and what are its advantages over traditional Sanger sequencing?

   • Answer: NGS is a high-throughput technology that allows for simultaneous sequencing of millions or billions of DNA fragments. Advantages over Sanger sequencing include higher throughput, lower cost per base, and ability to analyze larger regions of the genome simultaneously. This enables comprehensive genomic analysis.

5. How do you interpret a karyotype?

   • Answer: A karyotype is a visual representation of a person's chromosomes. Interpretation involves identifying the number and structure of chromosomes, looking for abnormalities like trisomies (e.g., Down syndrome), monosomies, translocations, deletions, and inversions. Understanding banding patterns is crucial for precise interpretation.

6. Explain the concept of copy number variations (CNVs).

   • Answer: CNVs are alterations in the number of copies of a DNA segment. They can involve duplications (extra copies) or deletions (missing copies) of a genomic region and can range in size from kilobases to megabases. CNVs are a common type of structural variation and can contribute to various genetic disorders.

7. What is a single nucleotide polymorphism (SNP)?

   • Answer: A SNP is a variation at a single nucleotide position in the genome. SNPs are the most common type of genetic variation and can be used in genetic mapping, disease association studies, and pharmacogenomics.

8. Describe different types of genetic mutations (e.g., missense, nonsense, frameshift).

   • Answer: Missense mutations result in a change of a single amino acid. Nonsense mutations introduce a premature stop codon, leading to a truncated protein. Frameshift mutations result from insertions or deletions of nucleotides that are not multiples of three, shifting the reading frame and altering the amino acid sequence downstream.

9. How is microarray technology used in clinical molecular genetics?

   • Answer: Microarrays are used for genome-wide analysis of gene expression, CNVs, and SNP genotyping. They involve hybridizing labeled DNA or RNA to probes on a chip to measure the relative abundance of different sequences. This allows for identification of genetic variations associated with diseases.

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