Visiting the Geneticist

In most cases, the initial appointment begins with documenting a complete medical history as well developing a basic family tree for both parents. In our case, as Lauren was a newborn, we also reviewed all the standard questions asked of new mothers - how was the pregnancy? And delivery? How is feeding going? Is the baby eating well? Sleeping? Pooping?

The geneticist, or genetic team, performed a complete physical exam from tip to toe looking at every possible detail. With Lauren, they looked at her eyes, ears, neck, neck fold, upturned nose, chest, nipple placement, arms, legs, hands, feet, each joint, each digit, her spine, every millimeter of skin and so on. They listened to her heart and took measurements of various parts as well as overall height, weight and head circumference.

Based on the evident physical features, the geneticist then outlined the possible diagnoses and recommended chromosome and DNA testing to eliminate or confirm. They reviewed the complications that coincide with the potential syndrome(s) and what our next steps should be including other specialists we should see while waiting for a confirmed diagnosis.

When we received our official, DNA confirmed diagnosis, it was the genetics team that outlined what this would mean for Lauren's growth, cognitive development, heart health, etc. They made referrals to a number of specialists and provided information about support groups ( and other online resources.

If we run into trouble getting a referral, or have questions about future siblings for Lauren, it's the genetics team we can turn to.

What is a Geneticist?

When asked what a Medical Geneticist is, what they do and how they do what they do, Marta Szybowska, Genetic Counselor at McMaster Children's Hospital in Hamilton, ON provided the following response:

Many genetic conditions or syndrome are defined by certain characteristics (although these are highly variable among individuals) – geneticists look for those characteristics on physical exam. The reason why they know that someone has, Down syndrome or Noonan syndrome for example, is because they are familiar with the typical facial features that individuals with these conditions have. This ability to recognize features comes with practice and training. Also, of course, they use other health information to reach a diagnosis as well – especially in conditions where the individual is non-dysmorphic. Dysmorphisms are any ‘differences’ from the way a physical feature is expected to form on average. For example, downslanting eyes, even though they may appear very nice and attractive (people often look very kind with such eyes), are in effect a dysmorphism to a geneticist – even though they are harmless and lots of people have downslanting eyes.

Basically, geneticists and genetic counselors are very good at pattern recognition (i.e. facial features, pattern of affected organs in a body, patterns of symptoms etc.)

So, when a family comes to the genetics, we take into consideration the medical and family history as well as the physical exam information, prenatal history, and developmental history in our assessment.

What do Medical Geneticists do?

The American College of Medical Genetics (ACMG) provides the following list: Diagnose, manage and treat patients with genetically influenced health problems
Elicit and evaluate individual and family medical histories
Perform genetic risk assessment
Conduct genetic tests Interpret clinical and laboratory information
Provide patient and family counseling
Explain the causes and natural history of genetic disorders
Use our knowledge of genetics in patient care decision making
Interact with other healthcare professionals in the provision of services for patients and families with genetically influenced disorders

And the Genetic Counselor?

The National Society of Genetic Counselors provides the following description:

"Genetic counselors are health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. Most enter the field from a variety of disciplines, including biology, genetics, nursing, psychology, public health, and social work.

Genetic counselors work as members of a health care team, providing information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions. They identify families at risk, investigate the problem present in the family, interpret information about the disorder, analyze inheritance patterns and risks of recurrence and review available options with the family.

Genetic counselors also provide supportive counseling to families, serve as patient advocates and refer individuals and families to community or state support services. They serve as educators and resource people for other health care professionals and for the general public. Some counselors also work in administrative capacities. Many engage in research activities related to the field of medical genetics and genetic counseling.

Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates:

Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence.
Education about inheritance, testing, management, prevention, resources and research.
Counseling to promote informed choices and adaptation to the risk or condition."

*National Society of Genetic Counselors, 2005

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