Genetics (from Ancient Greek γενετικός genetikos, “genitive” and that from γένεσις genesis, “origin”), a discipline of biology, is the science of heredity and variation in living organisms. The fact that living things inherit traits from their parents has been used since prehistoric times to improve crop plants and animals through selective breeding. However, the modern science of genetics, which seeks to understand the process of inheritance, only began with the work of Gregor Mendel in the mid-nineteenth century. Although he did not know the physical basis for heredity, Mendel observed that organisms inherit traits in a discrete manner—these basic units of inheritance are now called genes.

Genes correspond to regions within DNA, a molecule composed of a chain of four different types of nucleotides—the sequence of these nucleotides is the genetic information organisms inherit. DNA naturally occurs in a double stranded form, with nucleotides on each strand complementary to each other. Each strand can act as a template for creating a new partner strand—this is the physical method for making copies of genes that can be inherited.

The sequence of nucleotides in a gene is translated by cells to produce a chain of amino acids, creating proteins—the order of amino acids in a protein corresponds to the order of nucleotides in the gene. This is known as the genetic code. The amino acids in a protein determine how it folds into a three-dimensional shape; this structure is, in turn, responsible for the protein's function. Proteins carry out almost all the functions needed for cells to live. A change to the DNA in a gene can change a protein's amino acids, changing its shape and function: this can have a dramatic effect in the cell and on the organism as a whole.

Although genetics plays a large role in the appearance and behavior of organisms, it is the combination of genetics with what an organism experiences that determines the ultimate outcome. For example, while genes play a role in determining a person's height, the nutrition and health that person experiences in childhood also have a large effect.

• As a patient why would I seek the services of a geneticist?
• What is the difference between a MD and PhD Geneticist?
• What do Geneticists provide?
• What are the indications for a genetic referral?
• What is a genetic consultation?
• As a patient why would I seek the services of a geneticist?
• Who should have a genetic consultation?
• What happens in an initial/new patient consultation?
• What happens in a follow up appointment?
• How do I know if I or a family member has a genetic disorder?
• What are mitochondrial disorders?
• What are some genetic disorders I may have heard of that could cause my problems?
• What are inborn errors of metabolism?

Many patients with complicated medical problems affecting many organ systems causing widespread problems such as developmental delays, seizures, autism, enlarged hearts, or liver disease are born with an alteration in their inherited blueprint as the source for their difficulties.  Unfortunately, many go undiagnosed for years resulting in decreased quality of life for untreated problems or sometimes even death.  Because they are trained in the diagnosis and management of rare disorders, geneticists can often quickly identify the root of a patient’s problems despite years of testing and investigation by other doctors.

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While both can and often do conduct research in laboratory testing, only a MD can evaluate and manage a patient.

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A genetic consultation provides information and support to people who have, or may be at risk for, genetic disorders. During a consultation, a genetics professional meets with an individual or family to discuss genetic risks or to diagnose, confirm, or rule out a genetic condition.

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Individuals and families who are concerned about a genetic disease may benefit from a genetic consultation whether or not testing is available for that condition. Many people are seeking information and coping strategies as much as test results.

Reasons for referral for a genetics consultation are often grouped by age: Preconception/Prenatal, Pediatric, and Adult. We specialize is Pediatric and Adult genetic disorders. Common reasons for referrals to our practice are given below, but these lists are not exhaustive.

Common reasons for a pediatric genetics consultation:

• Abnormal newborn screening results
• One or more major malformations in any organ system
• Abnormalities in growth
• Mental retardation or developmental delay
• Autism
• Blindness or deafness
• Presence of a known or suspected genetic disorder or an inborn error of metabolism
• Family history of a known or suspected genetic disorder, birth defect, or an inborn error of metabolism

Common reasons for an adolescent/adult genetics consultation:

• Mental retardation
• Personal or family history of hereditary disorders
• Personal or family history of a known or suspected genetic condition or an inborn error of metabolism
• Blindness or deafness

Development of a degenerative disease

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Genetics consultations usually involve at least one hour in a one on one meeting with our physician covering the following topics:

• Assessment: Assess the risk of a genetic disorder by researching a family’s history and evaluating medical records.
• Evaluation: Interpreting medical data, family history, results of physical examination and tests
• Communication: Sharing information about the condition in an easy to understand method to help a patient make a decision about testing if further testing is suggested.
• Support: Explain possible treatments, provide details of ongoing management issues, counseling, or refer individuals and families to support services.
• Follow-up: Maintaining ongoing communication
• Arrange for follow-up diagnostic testing or management appointments, or communicate this need to the referring healthcare provider.
• Document the content of the consultation for the referring healthcare provider and for the patient when appropriate.

Contact the patient to assess level of understanding and response to decisions made.

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There are two reasons to have a follow up appointment. A diagnosed patient may require ongoing management or patients that remain undiagnosed may require follow up for ongoing evaluation. Follow up visits may take place in office or virtually (by skype or telephone) if routine or uncomplicated. Your physician will determine if a follow up visit is indicated and whether that appointment can be in office or virtual. You will make the final determination if a follow up visit is done in office or virtually based on your level of comfort and access to technology.

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