Geneticists

No small amount of knowledge of a host of fields of research can be assumed by either these scientists or these geneticists. The establishment of AI solutions that are technically strong, clinically relevant, ethically sound, and legally valid requires the assembly of a team of experts who represent a “union of interests.” Data scientists and AI developers need to be closely integrated with clinical geneticists and genetic counselors to ensure that the solutions being developed meet clinically relevant needs and can be incorporated without disrupting the existing work flow.

In a very real sense, genes are a language — a system to record and transmit information — but one that humans are simply ill-suited to speak. Watson and Crick may have discovered life’s alphabet, and subsequent geneticists may have deciphered the meaning of a variety of words, but a lexicon and grammar have yet to be uncovered. Enter AI.

The Division of Medical Genetics and Genomics is dedicated to delivering comprehensive, compassionate, and innovative care to individuals and families affected by rare genetic and metabolic conditions. Under the leadership of Dr. Neena Champaigne, our collaborative team of clinical geneticists, biochemical geneticists, genetic counselors, a metabolic dietitian, and support staff provides expert care across the lifespan—from newborns to adults.

We use a team approach in which we consult you, as well as one another, when making decisions. Our team includes highly experienced clinical geneticists and genetic counselors who are trained to provide you with clinical information as well as referrals to other specialists.

Specific to clinical genetics, computer vision leapt visibly onto the scene in 2010s, long before AI was a household word. One notable medical example was the app called “Face2Gene”, which introduced many clinical geneticists to DL methods. This product involves the use of DL to provide differential diagnoses based on facial images (later, other phenotypic data could be input as well).

remains essential. From double-checking AI’s findings to explaining results · to patients, providers like clinical geneticists and genetic counselors will · always have the last word in assessing genetic data. 6120 Executive Blvd, Suite 500, Rockville, Maryland 20852 ·

Generative AI tools, including LLMs, hold clear potential for supporting various professional roles involved in genetic medicine. For clinical geneticists, LLM-powered systems (described in this article as well as newly developed) can assist in providing definitive diagnosis, prediction of individual risks, and interactions with patients.

In a very real sense, genes are a language — a system to record and transmit information — but one that humans are simply ill-suited to speak. Watson and Crick may have discovered life’s alphabet, and subsequent geneticists may have deciphered the meaning of a variety of words, but a lexicon and grammar have yet to be uncovered. Enter AI.

In the field of clinical genetics, AI has the potential to help address intrinsic challenges, including a shortage of medical geneticists and genetics professionals relative to patient need16, the lack of standardized or sufficiently comprehensive ...

Specific to clinical genetics, computer vision leapt visibly onto the scene in 2010s, long before AI was a household word. One notable medical example was the app called “Face2Gene”, which introduced many clinical geneticists to DL methods. This product involves the use of DL to provide differential diagnoses based on facial images (later, other phenotypic data could be input as well).