Description

Job Description

Key Responsibilities and Tasks:

1. Clinical Consultation and Evaluation:

* Conduct thorough medical histories and physical examinations, focusing on features relevant to genetic disorders.

* Evaluate patients of all ages, from newborns to adults, with suspected or known genetic conditions.

* Order and interpret appropriate genetic tests, including chromosomal microarray analysis, single-gene testing, whole-exome sequencing, and other advanced genomic assays.

* Assess family history and construct detailed pedigrees to identify patterns of inheritance and risk factors.

2. Diagnosis and Management:

* Diagnose a wide range of genetic disorders, including chromosomal abnormalities, single-gene disorders, metabolic disorders, and multifactorial conditions.

* Develop and implement comprehensive management plans, including medical treatments, therapies, and supportive care.

* Coordinate care with other specialists, such as pediatricians, neurologists, cardiologists, and surgeons, to ensure integrated and holistic patient care.

* Monitor disease progression and adjust treatment plans as needed.

3. Genetic Counseling:

* Provide genetic counseling to individuals and families regarding the risk of inheriting or passing on genetic conditions.

* Explain the natural history, inheritance patterns, and management options for genetic disorders.

* Discuss reproductive options, including prenatal testing, preimplantation genetic diagnosis (PGD), and alternative reproductive technologies.

* Address psychosocial and ethical issues related to genetic testing and diagnosis.

* Offer emotional support and guidance to families coping with genetic conditions.

4. Laboratory Interpretation:

* Interpret complex genetic test results, including next-generation sequencing data, and integrate findings with clinical information.

* Collaborate with laboratory geneticists and other specialists to ensure accurate and timely test results.

* Stay up-to-date with advances in genetic testing technologies and their clinical applications.

5. Documentation and Reporting:

* Maintain accurate and detailed medical records, including clinical evaluations, test results, and management plans.

* Prepare comprehensive reports for patients, families, and referring physicians.

* Document genetic counseling sessions and recommendations.

6. Research and Education:

* Participate in clinical research studies to advance the understanding and treatment of genetic disorders.

* Contribute to the education of medical students, residents, and other healthcare professionals.

* Present lectures and workshops on genetic topics to professional and lay audiences.

* Stay current with the latest research and clinical guidelines in medical genetics.

7. Ethical and Legal Considerations:

* Adhere to ethical principles and legal guidelines related to genetic testing, privacy, and confidentiality.

* Obtain informed consent for genetic testing and procedures.

* Address ethical dilemmas that may arise in clinical practice.

8. Multidisciplinary Collaboration:

* Work collaboratively with genetic counselors, nurses, social workers, and other healthcare professionals to provide comprehensive patient care.

* Participate in multidisciplinary team meetings to discuss complex cases and develop coordinated management plans.

* Serve as a resource for other healthcare providers regarding genetic disorders and testing.

Required Skills and Qualifications:

* Medical degree (MD or DO)

* Completion of a residency program in clinical genetics or a combined residency program (e.g., pediatrics/genetics, internal medicine/genetics)

* Board certification in clinical genetics by the American Board of Medical Genetics and Genomics (ABMGG) or equivalent

* Strong knowledge of human genetics, genomics, and molecular biology

* Excellent clinical, diagnostic, and problem-solving skills

* Effective communication and interpersonal skills

* Ability to work collaboratively in a multidisciplinary team

* Empathy and compassion for patients and families affected by genetic disorders.